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<!DOCTYPE html> <html > <head> <meta charset="utf-8"> <meta rel="search" type="application/opensearchdescription+xml" href="/open_search.xml" title="Academia.edu"> <meta content="width=device-width, initial-scale=1" name="viewport"> <meta name="google-site-verification" content="bKJMBZA7E43xhDOopFZkssMMkBRjvYERV-NaN4R6mrs"> <meta name="csrf-param" content="authenticity_token" /> <meta name="csrf-token" content="VzVITDB1-17Z2v_9HwE5kyD4lzBPVLpTglRr6YPVEJQU0y4a6mzu6lMwZHBRrFLjy204zHApCw6h9FgKYF18jw" /> <meta name="citation_title" content="Detection of Mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 Families With Early-Onset High Myopia by Exome Sequencing" /> <meta name="citation_publication_date" content="2014/12/18" /> <meta name="citation_journal_title" content="Investigative Ophthalmology &amp; Visual Science" /> <meta name="citation_author" content="Qingjiong Zhang" /> <meta name="twitter:card" content="summary" /> <meta name="twitter:url" content="https://www.academia.edu/126098726/Detection_of_Mutations_in_LRPAP1_CTSH_LEPREL1_ZNF644_SLC39A5_and_SCO2_in_298_Families_With_Early_Onset_High_Myopia_by_Exome_Sequencing" /> <meta name="twitter:title" content="Detection of Mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 Families With Early-Onset High Myopia by Exome Sequencing" /> <meta name="twitter:description" content="PURPOSE. To evaluate variants in the LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 genes in 298 unrelated patients with early-onset high myopia (eoHM). METHODS. Genomic DNA from 298 patients with eoHM was analyzed by whole exome sequencing." /> <meta name="twitter:image" content="http://a.academia-assets.com/images/twitter-card.jpeg" /> <meta property="fb:app_id" content="2369844204" /> <meta property="og:type" content="article" /> <meta property="og:url" content="https://www.academia.edu/126098726/Detection_of_Mutations_in_LRPAP1_CTSH_LEPREL1_ZNF644_SLC39A5_and_SCO2_in_298_Families_With_Early_Onset_High_Myopia_by_Exome_Sequencing" /> <meta property="og:title" content="Detection of Mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 Families With Early-Onset High Myopia by Exome Sequencing" /> <meta property="og:image" content="http://a.academia-assets.com/images/open-graph-icons/fb-paper.gif" /> <meta property="og:description" content="PURPOSE. To evaluate variants in the LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 genes in 298 unrelated patients with early-onset high myopia (eoHM). METHODS. Genomic DNA from 298 patients with eoHM was analyzed by whole exome sequencing." /> <meta property="article:author" content="https://independent.academia.edu/QingjiongZhang" /> <meta name="description" content="PURPOSE. To evaluate variants in the LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 genes in 298 unrelated patients with early-onset high myopia (eoHM). METHODS. Genomic DNA from 298 patients with eoHM was analyzed by whole exome sequencing." /> <title>(PDF) Gene Mutations Linked to Early-Onset High Myopia</title> <link rel="canonical" href="https://www.academia.edu/126098726/Detection_of_Mutations_in_LRPAP1_CTSH_LEPREL1_ZNF644_SLC39A5_and_SCO2_in_298_Families_With_Early_Onset_High_Myopia_by_Exome_Sequencing" /> <script async src="https://www.googletagmanager.com/gtag/js?id=G-5VKX33P2DS"></script> <script> window.dataLayer = window.dataLayer || []; function gtag(){dataLayer.push(arguments);} gtag('js', new Date()); gtag('config', 'G-5VKX33P2DS', { cookie_domain: 'academia.edu', send_page_view: false, }); gtag('event', 'page_view', { 'controller': "single_work", 'action': "show", 'controller_action': 'single_work#show', 'logged_in': 'false', 'edge': 'unknown', // Send nil if there is no A/B test bucket, in case some records get logged // with missing data - that way we can distinguish between the two cases. // ab_test_bucket should be of the 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type="application/ld+json">{"@context":"https://schema.org","@type":"ScholarlyArticle","author":[{"@context":"https://schema.org","@type":"Person","name":"Qingjiong Zhang","url":"https://independent.academia.edu/QingjiongZhang"}],"contributor":[],"dateCreated":"2024-12-05","datePublished":"2014-12-18","headline":"Detection of Mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 Families With Early-Onset High Myopia by Exome Sequencing","image":"https://attachments.academia-assets.com/120028301/thumbnails/1.jpg","inLanguage":"en","keywords":["Genetics","Biology","Myopia","Adolescent","Medicine","Biological Sciences","DNA","Child","Mutation","Gene","Pedigree","Exome Sequencing","DNA binding proteins","Exome","Mitochondrial Proteins","DNA mutational analysis","Child preschool","frameshift mutation","Medical and Health Sciences","Genetic predisposition to disease"],"publication":"Investigative Ophthalmology \u0026 Visual 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"https://www.academia.edu/login?post_login_redirect_url=https%3A%2F%2Fwww.academia.edu%2F126098726%2FDetection_of_Mutations_in_LRPAP1_CTSH_LEPREL1_ZNF644_SLC39A5_and_SCO2_in_298_Families_With_Early_Onset_High_Myopia_by_Exome_Sequencing%3Fshow_translation%3Dtrue"; window.loswp.previewableAttachments = [{"id":120028301,"identifier":"Attachment_120028301","shouldShowBulkDownload":false}]; window.loswp.shouldDetectTimezone = true; window.loswp.shouldShowBulkDownload = true; window.loswp.showSignupCaptcha = false window.loswp.willEdgeCache = false; window.loswp.work = {"work":{"id":126098726,"created_at":"2024-12-05T17:11:56.797-08:00","from_world_paper_id":261612007,"updated_at":"2025-02-02T18:55:19.426-08:00","_data":{"publisher":"Cadmus Press","ai_title_tag":"Gene Mutations Linked to Early-Onset High Myopia","grobid_abstract":"PURPOSE. To evaluate variants in the LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 genes in 298 unrelated patients with early-onset high myopia (eoHM). METHODS. Genomic DNA from 298 patients with eoHM was analyzed by whole exome sequencing. Variants in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 genes were selected and analyzed with bioinformatics. Potential candidate variants were confirmed by Sanger sequencing and then validated in available family members and 192 healthy controls. RESULTS. A total of nine variants predicted to affect the functional residues were detected. The LRPAP1 gene showed a homozygous frameshift mutation (c.199delC, p.Q67Sfs*8) in a consanguineous family. The ZNF644 gene showed five heterozygous missense mutations (c.1106A\u003eT, p.K369M; c.1648G\u003eA, p.A550T; c.2014A\u003eG, p.S672G; c.2048G\u003eC, p.R683T, and c.2551G\u003eC, p.D851H) in five families, but the c.1106A\u003eT, (p.K369M) and c.1648G\u003eA, (p.A550T) in ZNF644 did not co-segregated with high myopia in the families and should be excluded as causative mutations. The SLC39A5 gene showed a heterozygous missense variant (c.1238G\u003eC, p.G413A) in a sporadic individual. The SCO2 gene showed two heterozygous missense variants (c.334C\u003eT, p.R112W and c.358C\u003eT, p.R120W) in two families. None of the variants was detected in 192 healthy controls and all were predicted to be damaging by both Polyphen-2 and SIFT, except for the previously reported p.S672G mutation in ZNF644, which was predicted to be damaging by SIFT but benign by Polyphen-2. No homozygous or compound heterozygous variants were found in CTSH and LEPREL1. CONCLUSIONS. Our results provide additional evidence to support the idea that mutation in LRPAP1 is associated with high myopia. Further studies are expected to evaluate the pathogenicity of the variants in CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2.","publication_date":"2014,12,18","publication_name":"Investigative Ophthalmology \u0026 Visual Science","grobid_abstract_attachment_id":"120028301"},"document_type":"paper","pre_hit_view_count_baseline":null,"quality":"high","language":"en","title":"Detection of Mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 Families With Early-Onset High Myopia by Exome Sequencing","broadcastable":false,"draft":null,"has_indexable_attachment":true,"indexable":true}}["work"]; window.loswp.workCoauthors = [45139348]; window.loswp.locale = "en"; window.loswp.countryCode = "SG"; window.loswp.cwvAbTestBucket = ""; window.loswp.designVariant = "ds_vanilla"; window.loswp.fullPageMobileSutdModalVariant = "full_page_mobile_sutd_modal"; window.loswp.useOptimizedScribd4genScript = false; window.loginModal = {}; window.loginModal.appleClientId = 'edu.academia.applesignon'; window.userInChina = "false";</script><script defer="" src="https://accounts.google.com/gsi/client"></script><div class="ds-loswp-container"><div class="ds-work-card--grid-container"><div class="ds-work-card--container js-loswp-work-card"><div class="ds-work-card--cover"><div class="ds-work-cover--wrapper"><div class="ds-work-cover--container"><button class="ds-work-cover--clickable js-swp-download-button" data-signup-modal="{"location":"swp-splash-paper-cover","attachmentId":120028301,"attachmentType":"pdf"}"><img alt="First page of “Detection of Mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 Families With Early-Onset High Myopia by Exome Sequencing”" class="ds-work-cover--cover-thumbnail" src="https://0.academia-photos.com/attachment_thumbnails/120028301/mini_magick20241206-1-90in53.png?1733447519" /><img alt="PDF Icon" class="ds-work-cover--file-icon" src="//a.academia-assets.com/images/single_work_splash/adobe_icon.svg" /><div class="ds-work-cover--hover-container"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">download</span><p>Download Free PDF</p></div><div class="ds-work-cover--ribbon-container">Download Free PDF</div><div class="ds-work-cover--ribbon-triangle"></div></button></div></div></div><div class="ds-work-card--work-information"><h1 class="ds-work-card--work-title">Detection of Mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 Families With Early-Onset High Myopia by Exome Sequencing</h1><div class="ds-work-card--work-authors ds-work-card--detail"><a class="ds-work-card--author js-wsj-grid-card-author ds2-5-body-md ds2-5-body-link" data-author-id="45139348" href="https://independent.academia.edu/QingjiongZhang"><img alt="Profile image of Qingjiong Zhang" class="ds-work-card--author-avatar" src="//a.academia-assets.com/images/s65_no_pic.png" />Qingjiong Zhang</a></div><div class="ds-work-card--detail"><p class="ds-work-card--detail ds2-5-body-sm">2014, Investigative Ophthalmology & Visual Science</p><div class="ds-work-card--work-metadata"><div class="ds-work-card--work-metadata__stat"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">visibility</span><p class="ds2-5-body-sm" id="work-metadata-view-count">…</p></div><div class="ds-work-card--work-metadata__stat"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">description</span><p class="ds2-5-body-sm">7 pages</p></div><div class="ds-work-card--work-metadata__stat"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">link</span><p class="ds2-5-body-sm">1 file</p></div></div><script>(async () => { const workId = 126098726; 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To evaluate variants in the LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 genes in 298 unrelated patients with early-onset high myopia (eoHM). METHODS. Genomic DNA from 298 patients with eoHM was analyzed by whole exome sequencing. Variants in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 genes were selected and analyzed with bioinformatics. Potential candidate variants were confirmed by Sanger sequencing and then validated in available family members and 192 healthy controls. RESULTS. A total of nine variants predicted to affect the functional residues were detected. The LRPAP1 gene showed a homozygous frameshift mutation (c.199delC, p.Q67Sfs*8) in a consanguineous family. The ZNF644 gene showed five heterozygous missense mutations (c.1106A>T, p.K369M; c.1648G>A, p.A550T; c.2014A>G, p.S672G; c.2048G>C, p.R683T, and c.2551G>C, p.D851H) in five families, but the c.1106A>T, (p.K369M) and c.1648G>A, (p.A550T) in ZNF644 did not co-segregated with high myopia in the families and should be excluded as causative mutations. The SLC39A5 gene showed a heterozygous missense variant (c.1238G>C, p.G413A) in a sporadic individual. The SCO2 gene showed two heterozygous missense variants (c.334C>T, p.R112W and c.358C>T, p.R120W) in two families. None of the variants was detected in 192 healthy controls and all were predicted to be damaging by both Polyphen-2 and SIFT, except for the previously reported p.S672G mutation in ZNF644, which was predicted to be damaging by SIFT but benign by Polyphen-2. No homozygous or compound heterozygous variants were found in CTSH and LEPREL1. CONCLUSIONS. Our results provide additional evidence to support the idea that mutation in LRPAP1 is associated with high myopia. Further studies are expected to evaluate the pathogenicity of the variants in CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2.</p><div class="ds-work-card--button-container"><button class="ds2-5-button js-swp-download-button" data-signup-modal="{"location":"continue-reading-button--work-card","attachmentId":120028301,"attachmentType":"pdf","workUrl":"https://www.academia.edu/126098726/Detection_of_Mutations_in_LRPAP1_CTSH_LEPREL1_ZNF644_SLC39A5_and_SCO2_in_298_Families_With_Early_Onset_High_Myopia_by_Exome_Sequencing"}">See full PDF</button><button class="ds2-5-button ds2-5-button--secondary js-swp-download-button" data-signup-modal="{"location":"download-pdf-button--work-card","attachmentId":120028301,"attachmentType":"pdf","workUrl":"https://www.academia.edu/126098726/Detection_of_Mutations_in_LRPAP1_CTSH_LEPREL1_ZNF644_SLC39A5_and_SCO2_in_298_Families_With_Early_Onset_High_Myopia_by_Exome_Sequencing"}"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">download</span>Download PDF</button></div><div class="ds-signup-banner-trigger-container"><div class="ds-signup-banner-trigger ds-signup-banner-trigger-premium-marketing"></div></div><div class="ds-signup-banner ds-signup-banner-premium-marketing"><div id="ds-signup-banner-close-button"><button class="ds2-5-button ds2-5-button--secondary ds2-5-button--inverse"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">close</span></button></div><div class="premium-banner-content"><div class="left"><img src="//a.academia-assets.com/images/academia-logo-capital-white.svg" /><span>Get access to the world's latest research</span></div><div class="right"><div class="card free"><div class="header">Free</div><div class="feature-list"><div class="feature"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">check</span><span>Download one paper at a time</span></div><div class="feature"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">check</span><span>Save papers to bookmarks</span></div><div class="feature"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">check</span><span>Basic search</span></div></div><button class="ds2-5-button ds2-5-button--secondary ds2-5-button--small ds2-5-button--inverse ds2-5-button--full-width js-swp-download-button" data-signup-modal="{"location":"premium-banner-desktop-free"}">Sign up for free</button></div><div class="card premium"><div class="pill">Recommended</div><div class="header premium">Premium</div><div class="feature-list"><div class="feature"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">check</span><span>Get highly curated PDF packages</span></div><div class="feature"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">check</span><span>Track your impact with Mentions</span></div><div class="feature"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">check</span><span>Access advanced search filters</span></div><div class="feature"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">check</span><span>Support Academia’s mission</span></div><div class="feature"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">check</span><span>Create your personal website</span></div></div><button class="ds2-5-button ds2-5-button--small ds2-5-button--inverse ds2-5-button--full-width js-swp-download-button" data-signup-modal="{"location":"premium-banner-desktop-upgrade","submitText":"Try Premium for $1"}">Try Premium for $1</button></div></div></div></div><script>(() => { // Set up signup banner show/hide behavior: // 1. 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data-client_id="331998490334-rsn3chp12mbkiqhl6e7lu2q0mlbu0f1b" data-doc_id="120028301" data-landing_url="https://www.academia.edu/126098726/Detection_of_Mutations_in_LRPAP1_CTSH_LEPREL1_ZNF644_SLC39A5_and_SCO2_in_298_Families_With_Early_Onset_High_Myopia_by_Exome_Sequencing" data-login_uri="https://www.academia.edu/registrations/google_one_tap" data-moment_callback="onGoogleOneTapEvent" id="g_id_onload"></div><div class="ds-top-related-works--grid-container"><div class="ds-related-content--container ds-top-related-works--container"><h2 class="ds-related-content--heading">Related papers</h2><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="0" data-entity-id="10724298" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/10724298/Mutations_in_SCO2_Are_Associated_with_Autosomal_Dominant_High_Grade_Myopia">Mutations in SCO2 Are Associated with Autosomal-Dominant 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ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/10724298/Mutations_in_SCO2_Are_Associated_with_Autosomal_Dominant_High_Grade_Myopia"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="1" data-entity-id="104961126" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/104961126/Mutations_in_DZIP1_and_XYLT1_are_associated_with_nonsyndromic_early_onset_high_myopia_in_the_Korean_population">Mutations in DZIP1 and XYLT1 are associated with nonsyndromic early onset high myopia in the Korean population</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="52156458" href="https://independent.academia.edu/HyunTaekLim">Hyun Taek Lim</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Ophthalmic genetics, 2017</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Mutations in DZIP1 and XYLT1 are associated with nonsyndromic early onset high myopia in the Korean population","attachmentId":104547478,"attachmentType":"pdf","work_url":"https://www.academia.edu/104961126/Mutations_in_DZIP1_and_XYLT1_are_associated_with_nonsyndromic_early_onset_high_myopia_in_the_Korean_population","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/104961126/Mutations_in_DZIP1_and_XYLT1_are_associated_with_nonsyndromic_early_onset_high_myopia_in_the_Korean_population"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="2" data-entity-id="52957742" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/52957742/Mutations_in_LRPAP1_Are_Associated_with_Severe_Myopia_in_Humans">Mutations in LRPAP1 Are Associated with Severe Myopia in Humans</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="50342951" href="https://independent.academia.edu/MohammedaAldahmesh">Mohammed a. Aldahmesh</a></div><p class="ds-related-work--metadata ds2-5-body-xs">The American Journal of Human Genetics, 2013</p><p class="ds-related-work--abstract ds2-5-body-sm">Myopia is an extremely common eye disorder but the pathogenesis of its isolated form, which accounts for the overwhelming majority of cases, remains poorly understood. There is strong evidence for genetic predisposition to myopia, but determining myopia genetic risk factors has been difficult to achieve. We have identified Mendelian forms of myopia in four consanguineous families and implemented exome/autozygome analysis to identify homozygous truncating variants in LRPAP1 and CTSH as the likely causal mutations. LRPAP1 encodes a chaperone of LRP1, which is known to influence TGF-b activity. Interestingly, we observed marked deficiency of LRP1 and upregulation of TGF-b in cells from affected individuals, the latter being consistent with available data on the role of TGF-b in the remodeling of the sclera in myopia and the high frequency of myopia in individuals with Marfan syndrome who characteristically have upregulation of TGF-b signaling. CTSH, on the other hand, encodes a protease and we show that deficiency of the murine ortholog results in markedly abnormal globes consistent with the observed human phenotype. Our data highlight a role for LRPAP1 and CTSH in myopia genetics and demonstrate the power of Mendelian forms in illuminating new molecular mechanisms that may be relevant to common phenotypes.</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Mutations in LRPAP1 Are Associated with Severe Myopia in Humans","attachmentId":69968853,"attachmentType":"pdf","work_url":"https://www.academia.edu/52957742/Mutations_in_LRPAP1_Are_Associated_with_Severe_Myopia_in_Humans","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/52957742/Mutations_in_LRPAP1_Are_Associated_with_Severe_Myopia_in_Humans"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="3" data-entity-id="77420889" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/77420889/Refinement_of_the_X_linked_Nonsyndromic_High_Grade_Myopia_Locus_MYP1_on_Xq28_and_Exclusion_of_13_Known_Positional_Candidate_Genes_by_Direct_Sequencing">Refinement of the X-linked Nonsyndromic High-Grade Myopia Locus MYP1 on Xq28 and Exclusion of 13 Known Positional Candidate Genes by Direct Sequencing</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="40910004" href="https://independent.academia.edu/CLu5">Lucia Bartoloni</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Investigative Ophthalmology & Visual Science, 2011</p><p class="ds-related-work--abstract ds2-5-body-sm">Myopia is a common vision problem affecting almost one third of the world's population. It can occur as an isolated genetic condition or be associated with other anomalies and/or syndromes. Seventeen myopia loci have been identified on various chromosomes; however, no specific gene mutations have yet been identified. METHODS. Two large multigeneration Asian Indian pedigrees (UR006 and UR077) with isolated, nonsyndromic myopia were studied, in which the condition appeared to segregate as an X-linked recessive trait (MYP1; MIM 310460). The degree of myopia was variable in both families, ranging from Ϫ6 to Ϫ23 D (mean, -8.48 D) with the majority Ͼ7.0 D. To map the myopia locus in these families, polymorphic microsatellite markers covering the entire X chromosome were used in linkage analyses performed on 42 genomic DNA samples (13 affected and 29 normal) from both families. Marker DXYS154, which is located within the pseudoautosomal region in distal Xq28 (PAR2; pseudoautosomal region 2), gave a combined maximum LOD score of 5.3 at ϭ 0 under an autosomal recessive model. Other markers in the region (near but not within the PAR2 region) that showed no recombination with the phenotype in both the families included DXS1108, DXS8087, and F8i13. CONCLUSIONS. Observation of recombination in family UR006 refined the disease locus to a ϳ1.25-Mb region flanked by the proximal marker DXS1073 and distal marker DXYS154. Mutation search in exons and splice junctions of candidate genes</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Refinement of the X-linked Nonsyndromic High-Grade Myopia Locus MYP1 on Xq28 and Exclusion of 13 Known Positional Candidate Genes by Direct Sequencing","attachmentId":84881300,"attachmentType":"pdf","work_url":"https://www.academia.edu/77420889/Refinement_of_the_X_linked_Nonsyndromic_High_Grade_Myopia_Locus_MYP1_on_Xq28_and_Exclusion_of_13_Known_Positional_Candidate_Genes_by_Direct_Sequencing","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/77420889/Refinement_of_the_X_linked_Nonsyndromic_High_Grade_Myopia_Locus_MYP1_on_Xq28_and_Exclusion_of_13_Known_Positional_Candidate_Genes_by_Direct_Sequencing"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="4" data-entity-id="77512324" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/77512324/Exome_sequencing_identified_null_mutations_in_LOXL3_associated_with_early_onset_high_myopia">Exome sequencing identified null mutations in LOXL3 associated with early-onset high myopia</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="45139348" href="https://independent.academia.edu/QingjiongZhang">Qingjiong Zhang</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Molecular Vision, 2016</p><p class="ds-related-work--abstract ds2-5-body-sm">Purpose To identify null mutations in novel genes associated with early-onset high myopia using whole exome sequencing. Methods Null mutations, including homozygous and compound heterozygous truncations, were selected from whole exome sequencing data for 298 probands with early-onset high myopia. These data were compared with those of 507 probands with other forms of eye diseases. Null mutations specific to early-onset high myopia were considered potential candidates. Candidate mutations were confirmed with Sanger sequencing and were subsequently evaluated in available family members and 480 healthy controls. Results A homozygous frameshift mutation (c.39dup; p.L14Afs*21) and a compound heterozygous frameshift mutation (c.39dup; p.L14Afs*21 and c.594delG; p.Q199Kfs*35) in LOXL3 were separately identified in two of the 298 probands with early-onset high myopia. These mutations were confirmed with Sanger sequencing and were not detected in 1,974 alleles of the controls from the same r...</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Exome sequencing identified null mutations in LOXL3 associated with early-onset high myopia","attachmentId":84859738,"attachmentType":"pdf","work_url":"https://www.academia.edu/77512324/Exome_sequencing_identified_null_mutations_in_LOXL3_associated_with_early_onset_high_myopia","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/77512324/Exome_sequencing_identified_null_mutations_in_LOXL3_associated_with_early_onset_high_myopia"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="5" data-entity-id="85014560" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/85014560/Replication_Study_SupportsCTNND2as_a_Susceptibility_Gene_for_High_Myopia">Replication Study SupportsCTNND2as a Susceptibility Gene for High Myopia</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="45139348" href="https://independent.academia.edu/QingjiongZhang">Qingjiong Zhang</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Investigative Opthalmology &amp; Visual Science, 2011</p><p class="ds-related-work--abstract ds2-5-body-sm">PURPOSE. The CTNND2 gene is located in the linkage interval of high myopia locus MYP16 and two single-nucleotide polymorphisms (SNPs; rs6885224 and rs12716080) in CTNND2 were recently shown to associate with high myopia. This study evaluated such associations in an independent case-control series. METHODS. A total of 2773 unrelated individuals were enrolled in this study, including 1203 subjects with high myopia (spherical refraction at each meridian Յ Ϫ6.00 D), 615 subjects with moderate myopia (Ϫ6.00 D Ͻ spherical refraction Յ Ϫ4.00 D), and 955 controls (Ϫ0.50 D to ϩ1.00 D, spherical equivalent). Genomic DNA was prepared from venous leukocytes. SNPs rs6885224 and rs12716080 in CTNND2 were determined by Sanger sequencing. Allele and genotype frequencies of the SNPs were compared between cases and controls by 2 test (␣ ϭ 0.05). RESULTS. One SNP, rs6885224, in CTNND2 showed significant differences in genotype and allele frequencies between high myopia and controls (genotype P ϭ 2.17Eϫ10 Ϫ5 , allele P ϭ 5.29Eϫ10 Ϫ6 , odds ratio [OR] ϭ 0.69, 95% confidence interval [CI] ϭ 0.591-0.812), as well as between moderate myopia and controls (genotype P ϭ 0.009, allele P ϭ 0.005, OR ϭ 0.765, 95% CI ϭ 0.633-0.924). rs12716080 showed no statistical difference between myopias and controls. CONCLUSIONS. These results confirmed the strong association between CTNND2 polymorphism and myopia. The minor allele C of rs6885224 was protective against myopia in this study but was a risk allele in a previous study. (Invest Ophthalmol</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Replication Study SupportsCTNND2as a Susceptibility Gene for High Myopia","attachmentId":89845945,"attachmentType":"pdf","work_url":"https://www.academia.edu/85014560/Replication_Study_SupportsCTNND2as_a_Susceptibility_Gene_for_High_Myopia","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/85014560/Replication_Study_SupportsCTNND2as_a_Susceptibility_Gene_for_High_Myopia"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="6" data-entity-id="24881397" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/24881397/Novel_mutations_in_the_small_leucine_rich_repeat_protein_proteoglycan_SLRP_genes_in_high_myopia">Novel mutations in the small leucine-rich repeat protein/proteoglycan (SLRP) genes in high myopia</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="47965358" href="https://independent.academia.edu/LeenaAlakokko">Leena Ala-kokko</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Human Mutation, 2007</p><p class="ds-related-work--abstract ds2-5-body-sm">The importance of the genetic component in high myopia has been well established in population and family studies, but only a few candidate genes have been explored to date. The extracellular matrix small leucine-rich repeat proteins/proteoglycans (SLRPs) regulate collagen fibril diameter and spacing. Given their role in extracellular matrix assembly and expression in the eye, they are likely to regulate its shape and size. Analysis of 85 English and 40 Finnish subjects with high myopia (refractive error of À6 diopters [D] or greater) resulted in 23 sequence variations in four SLRP genes, LUM, FMOD, PRELP, and OPTC. We observed higher number of variations in OPTC in English patients than in controls (p 5 0.042), and a possibly protective variation in LUM (c.893À105G>A) with p-value of 0.0043. Two intronic variations, six nonsynonymous and one synonymous amino acid changes, were not found in any of the nonmyopic controls. Five changes were detected in opticin, Thr177Arg, Arg229His, Arg325Trp, Gly329Ser, and Arg330His, and all but one (Arg229His) were shown to cosegregate with high myopia in families with incomplete penetrance. A homology model for opticin revealed that Arg229His and Arg325Trp are likely to disrupt the protein structure, and PolyPhen analysis suggested that Thr177Arg, Arg325Trp, and Gly329Ser changes may be damaging. A Leu199Pro change in lumican and Gly147Asp and Arg324Thr variations in fibromodulin are located in the highly conserved leucine-rich repeat (LRR) domains. This study provides new insight into the genetics of high myopia, suggesting that sequence variations in the SLRP genes expressed in the eye may be among the genetic risk factors underlying the pathogenesis of high myopia. Hum Mutat 28(4), 336-344, 2007. r r 2006 Wiley-Liss, Inc.</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Novel mutations in the small leucine-rich repeat protein/proteoglycan (SLRP) genes in high myopia","attachmentId":45202494,"attachmentType":"pdf","work_url":"https://www.academia.edu/24881397/Novel_mutations_in_the_small_leucine_rich_repeat_protein_proteoglycan_SLRP_genes_in_high_myopia","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/24881397/Novel_mutations_in_the_small_leucine_rich_repeat_protein_proteoglycan_SLRP_genes_in_high_myopia"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="7" data-entity-id="60958484" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/60958484/Evaluation_of_12_myopia_associated_genes_in_Chinese_patients_with_high_myopia">Evaluation of 12 myopia-associated genes in Chinese patients with high myopia</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="45139348" href="https://independent.academia.edu/QingjiongZhang">Qingjiong Zhang</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Investigative ophthalmology & visual science, 2015</p><p class="ds-related-work--abstract ds2-5-body-sm">Two recent large-scale genome-wide association studies identified significant associations between myopia and SNPs near the PRSS56, BMP3, KCNQ5, LAMA2, TOX, TJP2, RDH5, ZIC2, RASGRF1, GJD2, RBFOX1, and SHISA6 genes. Our study is to examine whether rare variants in these genes contribute to high myopia. Whole exome sequencing was performed on samples of 298 probands with early-onset high myopia (spherical refraction in each meridian ≤-6.00 D in both eyes; age of onset &lt;7 years) and 195 controls (different forms of retinal degeneration including Leber congenital amaurosis, cone-rod dystrophy, and familial exudative vitroretinopathy). Potential variations in these genes were selected for further validation and comparison to the controls. Moreover, Sanger sequencing was used to evaluate the coding regions and the upstream 800 base pairs of GJD2 in 395 additional subjects with late-onset moderate to high myopia (loMHM) (spherical refraction in each meridian ≤-4.00 D; age of onset ≥7 y...</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Evaluation of 12 myopia-associated genes in Chinese patients with high myopia","attachmentId":74174947,"attachmentType":"pdf","work_url":"https://www.academia.edu/60958484/Evaluation_of_12_myopia_associated_genes_in_Chinese_patients_with_high_myopia","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/60958484/Evaluation_of_12_myopia_associated_genes_in_Chinese_patients_with_high_myopia"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="8" data-entity-id="99323827" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/99323827/Evaluation_of_the_X_Linked_High_Grade_Myopia_Locus_MYP1_with_Cone_Dysfunction_and_Color_Vision_Deficiencies">Evaluation of the X-Linked High-Grade Myopia Locus (MYP1) with Cone Dysfunction and Color Vision Deficiencies</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="7343021" href="https://independent.academia.edu/YiJuLi">Yi-Ju Li</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Investigative Opthalmology &amp; Visual Science, 2009</p><p class="ds-related-work--abstract ds2-5-body-sm">Purpose-X-linked high myopia with mild cone dysfunction and color vision defects has been mapped to chromosome Xq28 (MYP1 locus). CXorf2/TEX28 is a nested, intercalated gene within the red-green opsin cone pigment gene tandem array on Xq28. The authors investigated whether TEX28 gene alterations were associated with the Xq28-linked myopia phenotype. Genomic DNA from five pedigrees (with high myopia and either protanopia or deuteranopia) that mapped to Xq28 were screened for TEX28 copy number variations (CNVs) and sequence variants. Methods-To examine for CNVs, ultra-high resolution array-comparative genomic hybridization (array-CGH) assays were performed comparing the subject genomic DNA with control samples (two pairs from two pedigrees). Opsin or TEX28 gene-targeted quantitative real-time gene expression assays (comparative CT method) were performed to validate the array-CGH findings. All exons of TEX28, including intron/exon boundaries, were amplified and sequenced using standard techniques. Results-Array-CGH findings revealed predicted duplications in affected patient samples. Although only three copies of TEX28 were previously reported within the opsin array, quantitative real-time analysis of the TEX28 targeted assay of affected male or carrier female individuals in these pedigrees revealed either fewer (one) or more (four or five) copies than did related and control unaffected individuals. Sequence analysis of TEX28 did not reveal any variants associated with the disease status. Conclusions-CNVs have been proposed to play a role in disease inheritance and susceptibility as they affect gene dosage. TEX28 gene CNVs appear to be associated with the MYP1 X-linked myopia phenotypes.</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Evaluation of the X-Linked High-Grade Myopia Locus (MYP1) with Cone Dysfunction and Color Vision Deficiencies","attachmentId":100444963,"attachmentType":"pdf","work_url":"https://www.academia.edu/99323827/Evaluation_of_the_X_Linked_High_Grade_Myopia_Locus_MYP1_with_Cone_Dysfunction_and_Color_Vision_Deficiencies","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/99323827/Evaluation_of_the_X_Linked_High_Grade_Myopia_Locus_MYP1_with_Cone_Dysfunction_and_Color_Vision_Deficiencies"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="9" data-entity-id="18362529" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/18362529/Identification_and_Replication_of_Three_Novel_Myopia_Common_Susceptibility_Gene_Loci_on_Chromosome_3q26_using_Linkage_and_Linkage_Disequilibrium_Mapping">Identification and Replication of Three Novel Myopia Common Susceptibility Gene Loci on Chromosome 3q26 using Linkage and Linkage Disequilibrium Mapping</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="38671459" href="https://independent.academia.edu/WinstonLau">Winston Lau</a><span>, </span><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="38352462" href="https://independent.academia.edu/FrancisCarbonaro">Francis Carbonaro</a></div><p class="ds-related-work--metadata ds2-5-body-xs">PLoS Genetics, 2008</p><p class="ds-related-work--abstract ds2-5-body-sm">Refractive error is a highly heritable quantitative trait responsible for considerable morbidity. Following an initial genomewide linkage study using microsatellite markers, we confirmed evidence for linkage to chromosome 3q26 and then conducted fine-scale association mapping using high-resolution linkage disequilibrium unit (LDU) maps. We used a preliminary discovery marker set across the 30-Mb region with an average SNP density of 1 SNP/15 kb (Map 1). Map 1 was divided into 51 LDU windows and additional SNPs were genotyped for six regions (Map 2) that showed preliminary evidence of multi-marker association using composite likelihood. A total of 575 cases and controls selected from the tails of the trait distribution were genotyped for the discovery sample. Malecot model estimates indicate three loci with putative common functional variants centred on MFN1 (180,566 kb; 95% confidence interval 180,505-180, 655 kb), approximately 156 kb upstream from alternate-splicing SOX2OT (182,595 kb; 95% CI 182,533-182,688 kb) and PSARL (184,386 kb; 95% CI 184,411 kb), with the loci showing modest to strong evidence of association for the Map 2 discovery samples (p,10 27 , p,10 210 , and p = 0.01, respectively). Using an unselected independent sample of 1,430 individuals, results replicated for the MFN1 (p = 0.006), SOX2OT (p = 0.0002), and PSARL (p = 0.0005) gene regions. MFN1 and PSARL both interact with OPA1 to regulate mitochondrial fusion and the inhibition of mitochondrial-led apoptosis, respectively. That two mitochondrial regulatory processes in the retina are implicated in the aetiology of myopia is surprising and is likely to provide novel insight into the molecular genetic basis of common myopia.</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Identification and Replication of Three Novel Myopia Common Susceptibility Gene Loci on Chromosome 3q26 using Linkage and Linkage Disequilibrium Mapping","attachmentId":40014317,"attachmentType":"pdf","work_url":"https://www.academia.edu/18362529/Identification_and_Replication_of_Three_Novel_Myopia_Common_Susceptibility_Gene_Loci_on_Chromosome_3q26_using_Linkage_and_Linkage_Disequilibrium_Mapping","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/18362529/Identification_and_Replication_of_Three_Novel_Myopia_Common_Susceptibility_Gene_Loci_on_Chromosome_3q26_using_Linkage_and_Linkage_Disequilibrium_Mapping"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div></div></div><div class="ds-sticky-ctas--wrapper js-loswp-sticky-ctas hidden"><div class="ds-sticky-ctas--grid-container"><div class="ds-sticky-ctas--container"><button class="ds2-5-button js-swp-download-button" data-signup-modal="{"location":"continue-reading-button--sticky-ctas","attachmentId":120028301,"attachmentType":"pdf","workUrl":null}">See full PDF</button><button class="ds2-5-button ds2-5-button--secondary js-swp-download-button" data-signup-modal="{"location":"download-pdf-button--sticky-ctas","attachmentId":120028301,"attachmentType":"pdf","workUrl":null}"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">download</span>Download PDF</button></div></div></div><div class="ds-below-fold--grid-container"><div class="ds-work--container js-loswp-embedded-document"><div class="attachment_preview" data-attachment="Attachment_120028301" style="display: none"><div class="js-scribd-document-container"><div class="scribd--document-loading js-scribd-document-loader" style="display: block;"><img alt="Loading..." src="//a.academia-assets.com/images/loaders/paper-load.gif" /><p>Loading Preview</p></div></div><div style="text-align: center;"><div class="scribd--no-preview-alert js-preview-unavailable"><p>Sorry, preview is currently unavailable. You can download the paper by clicking the button above.</p></div></div></div></div><div class="ds-sidebar--container js-work-sidebar"><div class="ds-related-content--container"><h2 class="ds-related-content--heading">Related papers</h2><div class="ds-related-work--container js-related-work-sidebar-card" data-collection-position="0" data-entity-id="60958533" data-sort-order="default"><a class="ds-related-work--title js-related-work-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/60958533/Unique_Variants_in_OPN1LW_Cause_Both_Syndromic_and_Nonsyndromic_X_Linked_High_Myopia_Mapped_to_MYP1">Unique Variants in OPN1LW Cause Both Syndromic and Nonsyndromic X-Linked High Myopia Mapped to MYP1</a><div class="ds-related-work--metadata"><a class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="45139348" href="https://independent.academia.edu/QingjiongZhang">Qingjiong Zhang</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Investigative ophthalmology & visual science, 2015</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Unique Variants in OPN1LW Cause Both Syndromic and Nonsyndromic X-Linked High Myopia Mapped to MYP1","attachmentId":74174925,"attachmentType":"pdf","work_url":"https://www.academia.edu/60958533/Unique_Variants_in_OPN1LW_Cause_Both_Syndromic_and_Nonsyndromic_X_Linked_High_Myopia_Mapped_to_MYP1","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-related-work-grid-card-view-pdf" href="https://www.academia.edu/60958533/Unique_Variants_in_OPN1LW_Cause_Both_Syndromic_and_Nonsyndromic_X_Linked_High_Myopia_Mapped_to_MYP1"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-related-work-sidebar-card" data-collection-position="1" data-entity-id="78969556" data-sort-order="default"><a class="ds-related-work--title js-related-work-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/78969556/Next_Generation_Sequencing_Screening_of_43_Families_with_Non_Syndromic_Early_Onset_High_Myopia_A_Clinical_and_Genetic_Study">Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study</a><div class="ds-related-work--metadata"><a class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="37087965" href="https://independent.academia.edu/ElenaVallespin">Elena Vallespin</a></div><p class="ds-related-work--metadata ds2-5-body-xs">International Journal of 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class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="56318831" href="https://independent.academia.edu/GinatNarkis">Ginat Narkis</a></div><p class="ds-related-work--metadata ds2-5-body-xs">The American Journal of Human Genetics, 2011</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"High Myopia Caused by a Mutation in LEPREL1, Encoding Prolyl 3-Hydroxylase 2","attachmentId":50149847,"attachmentType":"pdf","work_url":"https://www.academia.edu/29702562/High_Myopia_Caused_by_a_Mutation_in_LEPREL1_Encoding_Prolyl_3_Hydroxylase_2","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-related-work-grid-card-view-pdf" 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ds2-5-body-xs">Journal of Medical Genetics, 2005</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Novel locus for X linked recessive high myopia maps to Xq23-q25 but outside MYP1","attachmentId":112208797,"attachmentType":"pdf","work_url":"https://www.academia.edu/115941730/Novel_locus_for_X_linked_recessive_high_myopia_maps_to_Xq23_q25_but_outside_MYP1","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-related-work-grid-card-view-pdf" href="https://www.academia.edu/115941730/Novel_locus_for_X_linked_recessive_high_myopia_maps_to_Xq23_q25_but_outside_MYP1"><span class="ds2-5-text-link__content">View PDF</span><span 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class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="58483290" href="https://independent.academia.edu/RobertKuijpers">Robert Kuijpers</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Nature Genetics, 2010</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14","attachmentId":117696960,"attachmentType":"pdf","work_url":"https://www.academia.edu/123209880/A_genome_wide_association_study_identifies_a_susceptibility_locus_for_refractive_errors_and_myopia_at_15q14","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link 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class="ds-related-work--metadata ds2-5-body-xs">Molecular Vision, 2017</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Insight into the molecular genetics of myopia","attachmentId":80499750,"attachmentType":"pdf","work_url":"https://www.academia.edu/70966007/Insight_into_the_molecular_genetics_of_myopia","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-related-work-grid-card-view-pdf" href="https://www.academia.edu/70966007/Insight_into_the_molecular_genetics_of_myopia"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-related-work-sidebar-card" data-collection-position="9" data-entity-id="60958469" data-sort-order="default"><a class="ds-related-work--title js-related-work-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/60958469/Confirmation_of_a_genetic_locus_for_X_linked_recessive_high_myopia_outside_MYP1">Confirmation of a genetic locus for X-linked recessive high myopia outside MYP1</a><div class="ds-related-work--metadata"><a class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="45139348" href="https://independent.academia.edu/QingjiongZhang">Qingjiong Zhang</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Journal of Human Genetics, 2007</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Confirmation of a genetic locus for X-linked recessive 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class="ds-related-work--metadata"><a class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="45139348" href="https://independent.academia.edu/QingjiongZhang">Qingjiong Zhang</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Investigative ophthalmology & visual science, 2015</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes","attachmentId":84859733,"attachmentType":"pdf","work_url":"https://www.academia.edu/77512303/Exome_Sequencing_on_298_Probands_With_Early_Onset_High_Myopia_Approximately_One_Fourth_Show_Potential_Pathogenic_Mutations_in_RetNet_Genes","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" 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