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(PDF) Importance of the autosomal recessive retinitis pigmentosa locus on 1q31-q32.1 (RP 12) and mutation analysis of the candidate gene RGS16 (RGS-r)
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window.loswp.shouldShowBulkDownload = true; window.loswp.showSignupCaptcha = false window.loswp.willEdgeCache = false; window.loswp.work = {"work":{"id":14473386,"created_at":"2015-07-28T15:09:37.755-07:00","from_world_paper_id":140261291,"updated_at":"2024-12-02T20:09:18.569-08:00","_data":{"ai_abstract":"Retinitis pigmentosa (RP) is a group of retinal degenerations impacting rod photoreceptors, leading to progressive vision loss. This study focuses on the autosomal recessive retinitis pigmentosa locus at 1q31-q32.1 (RP12) and analyzes mutations in the candidate gene RGS16 (RGS-r). Through linkage analysis and homozygosity mapping in consanguineous families from Europe and Asia, the importance of the RP12 locus as a cause of ARRP is established, alongside insights into the role of RGS16/RGS-r mutations.","publication_date":"2000,,","publication_name":"Journal of Medical Genetics"},"document_type":"paper","pre_hit_view_count_baseline":null,"quality":"high","language":"en","title":"Importance of the autosomal recessive retinitis pigmentosa locus on 1q31-q32.1 (RP 12) and mutation analysis of the candidate gene RGS16 (RGS-r)","broadcastable":false,"draft":null,"has_indexable_attachment":true,"indexable":true}}["work"]; window.loswp.workCoauthors = [33413665]; window.loswp.locale = "en"; window.loswp.countryCode = "SG"; window.loswp.cwvAbTestBucket = ""; window.loswp.designVariant = "ds_vanilla"; window.loswp.fullPageMobileSutdModalVariant = "control"; 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":44125669,"attachmentType":"pdf"}"><img alt="First page of “Importance of the autosomal recessive retinitis pigmentosa locus on 1q31-q32.1 (RP 12) and mutation analysis of the candidate gene RGS16 (RGS-r)”" class="ds-work-cover--cover-thumbnail" src="https://0.academia-photos.com/attachment_thumbnails/44125669/mini_magick20190215-31473-1erx0qc.png?1550220489" /><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">Importance of the autosomal recessive retinitis pigmentosa locus on 1q31-q32.1 (RP 12) and mutation analysis of the candidate gene RGS16 (RGS-r)</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="33413665" href="https://brunel.academia.edu/AnnettePayne"><img alt="Profile image of Annette Payne" class="ds-work-card--author-avatar" src="https://0.academia-photos.com/33413665/18475817/18437903/s65_annette.payne.jpg" />Annette Payne</a></div><div class="ds-work-card--detail"><p class="ds-work-card--detail ds2-5-body-sm">2000, Journal of Medical Genetics</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">4 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 = 14473386; 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if (!viewCountBody) { throw new Error('Failed to find work views element'); } viewCountBody.textContent = `${commaizedViewCount} views`; } catch (error) { // Remove the whole views element if there was some issue parsing. document.getElementById('work-metadata-view-count')?.parentNode?.remove(); throw new Error(`Failed to parse view count: ${viewCount}`, error); } }; // If the DOM is still loading, wait for it to be ready before updating the view count. if (document.readyState === "loading") { document.addEventListener('DOMContentLoaded', () => { updateViewCount(viewCount); }); // Otherwise, just update it immediately. } else { updateViewCount(viewCount); } })();</script></div><p class="ds-work-card--detail ds2-5-body-md">AI-generated Abstract</p><p class="ds-work-card--work-abstract ds-work-card--detail ds2-5-body-md">Retinitis pigmentosa (RP) is a group of retinal degenerations impacting rod photoreceptors, leading to progressive vision loss. This study focuses on the autosomal recessive retinitis pigmentosa locus at 1q31-q32.1 (RP12) and analyzes mutations in the candidate gene RGS16 (RGS-r). Through linkage analysis and homozygosity mapping in consanguineous families from Europe and Asia, the importance of the RP12 locus as a cause of ARRP is established, alongside insights into the role of RGS16/RGS-r mutations.</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":44125669,"attachmentType":"pdf","workUrl":"https://www.academia.edu/14473386/Importance_of_the_autosomal_recessive_retinitis_pigmentosa_locus_on_1q31_q32_1_RP_12_and_mutation_analysis_of_the_candidate_gene_RGS16_RGS_r_"}">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":44125669,"attachmentType":"pdf","workUrl":"https://www.academia.edu/14473386/Importance_of_the_autosomal_recessive_retinitis_pigmentosa_locus_on_1q31_q32_1_RP_12_and_mutation_analysis_of_the_candidate_gene_RGS16_RGS_r_"}"><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-control"></div></div><div class="ds-signup-banner ds-signup-banner-control"><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="ds-signup-banner-ctas"><img src="//a.academia-assets.com/images/academia-logo-capital-white.svg" /><h4 class="ds2-5-heading-serif-sm">Sign up for access to the world's latest research</h4><button class="ds2-5-button ds2-5-button--inverse ds2-5-button--full-width js-swp-download-button" data-signup-modal="{"location":"signup-banner"}">Sign up for free<span class="material-symbols-outlined" style="font-size: 20px" translate="no">arrow_forward</span></button></div><div class="ds-signup-banner-divider"></div><div class="ds-signup-banner-reasons"><div class="ds-signup-banner-reasons-item"><span class="material-symbols-outlined" style="font-size: 24px" translate="no">check</span><span>Get notified about relevant papers</span></div><div class="ds-signup-banner-reasons-item"><span class="material-symbols-outlined" style="font-size: 24px" translate="no">check</span><span>Save papers to use in your research</span></div><div class="ds-signup-banner-reasons-item"><span class="material-symbols-outlined" style="font-size: 24px" translate="no">check</span><span>Join the discussion with peers</span></div><div class="ds-signup-banner-reasons-item"><span class="material-symbols-outlined" style="font-size: 24px" translate="no">check</span><span>Track your impact</span></div></div></div><script>(() => { // Set up signup banner show/hide behavior: // 1. 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RPE65, encoding a retinal pigment epithelium-Autosomal recessive retinitis pigmentosa (arRP) is specific protein ; and RLBP1, the gene a genetically and clinically heterogeneous and proencoding cellular retinaldehyde-binding protein (Maw gressive degenerative disorder of the retina, leading et al., 1997). It seems that all these genes are involved usually to severe visual handicap in adulthood. To only in a minority (õ5% each) of arRP cases. We have date, disease loci/genes have been mapped/identified collected DNA samples in the Indian subcontinent from only in a minority of cases. DNA samples were colmembers of large consanguineous arRP families suitlected from 20 large consanguineous Indian families, able for the ''homozygosity mapping'' approach (Lander in which arRP segregated and that were suitable for and Botstein, 1987; and report the ashomozygosity mapping of the disease locus. After exsignment of a further arRP locus to the proximal short cluding linkage to all known arRP loci, a genome-wide arm of chromosome 16p. scan was initiated. In two families, homozygosity mapping, haplotype analysis, and linkage data mapped the MATERIALS AND METHODS disease locus (RP22) in an approximately 16-cM region between D16S287 and D16S420 on the proximal short arm of chromosome 16. No mutation has been found Clinical diagnosis. The clinical manifestation of the disease in family PMK156 was fairly typical of a rapidly progressive and relaby direct sequencing in the gene (CRYM) encoding m tively severe form of arRP. The fundal picture was typical for RP, crystallin, which maps in the critical region. ᭧ 1998</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":"Homozygosity Mapping of Autosomal Recessive Retinitis Pigmentosa Locus (RP22) on Chromosome 16p12.1–p12.3","attachmentId":45292025,"attachmentType":"pdf","work_url":"https://www.academia.edu/13480126/Homozygosity_Mapping_of_Autosomal_Recessive_Retinitis_Pigmentosa_Locus_RP22_on_Chromosome_16p12_1_p12_3","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/13480126/Homozygosity_Mapping_of_Autosomal_Recessive_Retinitis_Pigmentosa_Locus_RP22_on_Chromosome_16p12_1_p12_3"><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="2657590" 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/2657590/Refinement_of_the_Locus_for_Autosomal_Recessive_Retinitis_Pigmentosa_RP25_Linked_to_Chromosome_6q_in_a_Family_of_Pakistani_Origin">Refinement of the Locus for Autosomal Recessive Retinitis Pigmentosa (RP25) Linked to Chromosome 6q in a Family of Pakistani Origin</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="3379044" href="https://ibge.academia.edu/AbdulHameed">Abdul Hameed</a></div><p class="ds-related-work--metadata ds2-5-body-xs">American Journal of Human Genetics, 1999</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 Locus for Autosomal Recessive Retinitis Pigmentosa (RP25) Linked to Chromosome 6q in a Family of Pakistani Origin","attachmentId":50551532,"attachmentType":"pdf","work_url":"https://www.academia.edu/2657590/Refinement_of_the_Locus_for_Autosomal_Recessive_Retinitis_Pigmentosa_RP25_Linked_to_Chromosome_6q_in_a_Family_of_Pakistani_Origin","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/2657590/Refinement_of_the_Locus_for_Autosomal_Recessive_Retinitis_Pigmentosa_RP25_Linked_to_Chromosome_6q_in_a_Family_of_Pakistani_Origin"><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="32136572" 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/32136572/A_New_Locus_for_Autosomal_Recessive_Retinitis_Pigmentosa_RP19_Maps_to_1p13_1p21">A New Locus for Autosomal Recessive Retinitis Pigmentosa (RP19) Maps to 1p13–1p21</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="35539815" href="https://independent.academia.edu/DanielGrinberg">Daniel Grinberg</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Genomics, 1997</p><p class="ds-related-work--abstract ds2-5-body-sm">Autosomal recessive retinitis pigmentosa (arRP) is characterized by considerable allelic and nonallelic heterogeneity. Mutations have been described in the rhodopsin gene (RHO), the genes encoding the α and β subunits of rod phosphodiesterase (PDEA and PDEB) and the gene encoding the α subunit of the cGMP-gated channel (CNCG). In addition, linkage studies in single extended pedigrees have defined two new arRP loci, at 1q and 6p. In order to identify the disease gene in a Spanish consanguineous arRP family, a linkage analysis was undertaken. After testing 102 polymorphic markers, a significant positive lod score (Ζ max =3.64 at θ=0) was obtained with marker D1S188 at 1p13-p21, the same region where the Stargardt and fundus flavimaculatus (FFM) loci were previously defined. Exhaustive ophthalmologic examination of the patients clearly distinguished the disease from the Stargardt and FFM phenotypes, and revealed an atypical form of arRP with choroidal atrophy as a distinctive feature.</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 New Locus for Autosomal Recessive Retinitis Pigmentosa (RP19) Maps to 1p13–1p21","attachmentId":52378998,"attachmentType":"pdf","work_url":"https://www.academia.edu/32136572/A_New_Locus_for_Autosomal_Recessive_Retinitis_Pigmentosa_RP19_Maps_to_1p13_1p21","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/32136572/A_New_Locus_for_Autosomal_Recessive_Retinitis_Pigmentosa_RP19_Maps_to_1p13_1p21"><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="30487199" 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/30487199/A_new_locus_for_autosomal_recessive_RP_RP29_mapping_to_chromosome_4q32_q34_in_a_Pakistani_family">A new locus for autosomal recessive RP (RP29) mapping to chromosome 4q32-q34 in a Pakistani family</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="29265658" href="https://independent.academia.edu/MuhammadIsmail144">Muhammad Ismail</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Investigative Ophthalmology &amp Visual Science</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 new locus for autosomal recessive RP (RP29) mapping to chromosome 4q32-q34 in a Pakistani family","attachmentId":50925761,"attachmentType":"pdf","work_url":"https://www.academia.edu/30487199/A_new_locus_for_autosomal_recessive_RP_RP29_mapping_to_chromosome_4q32_q34_in_a_Pakistani_family","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/30487199/A_new_locus_for_autosomal_recessive_RP_RP29_mapping_to_chromosome_4q32_q34_in_a_Pakistani_family"><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="119645133" 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/119645133/Fine_genetic_mapping_of_a_gene_for_autosomal_recessive_retinitis_pigmentosa_on_chromosome_6p21">Fine genetic mapping of a gene for autosomal recessive retinitis pigmentosa on chromosome 6p21</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="42267898" href="https://independent.academia.edu/GPenchaszadeh">G. Penchaszadeh</a></div><p class="ds-related-work--metadata ds2-5-body-xs">American journal of human genetics, 1995</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":"Fine genetic mapping of a gene for autosomal recessive retinitis pigmentosa on chromosome 6p21","attachmentId":115021345,"attachmentType":"pdf","work_url":"https://www.academia.edu/119645133/Fine_genetic_mapping_of_a_gene_for_autosomal_recessive_retinitis_pigmentosa_on_chromosome_6p21","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/119645133/Fine_genetic_mapping_of_a_gene_for_autosomal_recessive_retinitis_pigmentosa_on_chromosome_6p21"><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="14473354" 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/14473354/A_new_locus_for_autosomal_recessive_retinitis_pigmentosa_mapping_to_chromosome_4q32_34">A new locus for autosomal recessive retinitis pigmentosa mapping to chromosome 4q32-34</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="33413665" href="https://brunel.academia.edu/AnnettePayne">Annette Payne</a></div><p class="ds-related-work--metadata ds2-5-body-xs">2000</p><p class="ds-related-work--abstract ds2-5-body-sm">Autosomal recessive retinitis pigmentosa (arRP) is characterized by considerable allelic and nonallelic heterogeneity. Mutations have been described in the rhodopsin gene (RHO), the genes encoding the α and β subunits of rod phosphodiesterase (PDEA and PDEB) and the gene encoding the α subunit of the cGMP-gated channel (CNCG). In addition, linkage studies in single extended pedigrees have defined two new arRP loci, at 1q and 6p. In order to identify the disease gene in a Spanish consanguineous arRP family, a linkage analysis was undertaken. After testing 102 polymorphic markers, a significant positive lod score (Ζ max =3.64 at θ=0) was obtained with marker D1S188 at 1p13-p21, the same region where the Stargardt and fundus flavimaculatus (FFM) loci were previously defined. Exhaustive ophthalmologic examination of the patients clearly distinguished the disease from the Stargardt and FFM phenotypes, and revealed an atypical form of arRP with choroidal atrophy as a distinctive feature.</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 new locus for autosomal recessive retinitis pigmentosa mapping to chromosome 4q32-34","attachmentId":44125692,"attachmentType":"pdf","work_url":"https://www.academia.edu/14473354/A_new_locus_for_autosomal_recessive_retinitis_pigmentosa_mapping_to_chromosome_4q32_34","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/14473354/A_new_locus_for_autosomal_recessive_retinitis_pigmentosa_mapping_to_chromosome_4q32_34"><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="4545077" 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/4545077/A_Novel_Locus_for_Autosomal_Recessive_Retinitis_Pigmentosa_in_a_Consanguineous_Pakistani_Family_Maps_to_Chromosome_2p">A Novel Locus for Autosomal Recessive Retinitis Pigmentosa in a Consanguineous Pakistani Family Maps to Chromosome 2p</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="5670427" href="https://independent.academia.edu/mariamshahid">mariam shahid</a></div><p class="ds-related-work--metadata ds2-5-body-xs">American Journal of Ophthalmology, 2010</p><p class="ds-related-work--abstract ds2-5-body-sm">OBJECTIVE-To identify a disease locus for autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.</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 Novel Locus for Autosomal Recessive Retinitis Pigmentosa in a Consanguineous Pakistani Family Maps to Chromosome 2p","attachmentId":49797843,"attachmentType":"pdf","work_url":"https://www.academia.edu/4545077/A_Novel_Locus_for_Autosomal_Recessive_Retinitis_Pigmentosa_in_a_Consanguineous_Pakistani_Family_Maps_to_Chromosome_2p","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/4545077/A_Novel_Locus_for_Autosomal_Recessive_Retinitis_Pigmentosa_in_a_Consanguineous_Pakistani_Family_Maps_to_Chromosome_2p"><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="12511825" 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/12511825/Mutations_in_the_RP1_gene_causing_autosomal_dominant_retinitis_pigmentosa">Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa</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="31384787" href="https://independent.academia.edu/LoriSullivan2">Lori Sullivan</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Human Molecular Genetics, 1999</p><p class="ds-related-work--abstract ds2-5-body-sm">Retinitis pigmentosa is a genetically heterogeneous form of retinal degeneration that affects~1 in 3500 people worldwide. Recently we identified the gene responsible for the RP1 form of autosomal dominant retinitis pigmentosa (adRP) at 8q11-12 and found two different nonsense mutations in three families previously mapped to 8q. The RP1 gene is an unusually large protein, 2156 amino acids in length, but is comprised of four exons only. To determine the frequency and range of mutations in RP1 we screened probands from 56 large adRP families for mutations in the entire gene. After preliminary results indicated that mutations seem to cluster in a 442 nucleotide segment of exon 4, an additional 194 probands with adRP and 409 probands with other degenerative retinal diseases were tested for mutations in this region alone. We identified eight different disease-causing mutations in 17 of the 250 adRP probands tested. All of these mutations are either nonsense or frameshift mutations and lead to a severely truncated protein. Two of the eight different mutations, Arg677X and a 5 bp deletion of nucleotides 2280-2284, were reported previously, while the remaining six mutations are novel. We also identified two rare missense changes in two other families, one new polymorphic amino acid substitution, one silent substitution and a rare variant in the 5′ ′ ′ ′-untranslated region that is not associated with disease. Based on this study, mutations in RP1 appear to cause at least 7% (17/250) of adRP. The 5 bp deletion of nucleotides 2280-2284 and the Arg677X nonsense mutation account for 59% (10/17) of these mutations. Further studies will determine whether missense changes in the RP1 gene are associated with disease, whether mutations in other regions of RP1 can cause forms of retinal disease other than adRP and whether the background variation in either the mutated or wild-type RP1 allele plays a role in the disease phenotype.</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 the RP1 gene causing autosomal dominant retinitis pigmentosa","attachmentId":46126138,"attachmentType":"pdf","work_url":"https://www.academia.edu/12511825/Mutations_in_the_RP1_gene_causing_autosomal_dominant_retinitis_pigmentosa","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/12511825/Mutations_in_the_RP1_gene_causing_autosomal_dominant_retinitis_pigmentosa"><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="53712729" 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/53712729/Homozygosity_and_Physical_Mapping_of_the_Autosomal_Recessive_Retinitis_Pigmentosa_Locus_RP14_on_Chromosome_6p21_3">Homozygosity and Physical Mapping of the Autosomal Recessive Retinitis Pigmentosa Locus (RP14) on Chromosome 6p21.3</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="115865152" href="https://independent.academia.edu/PatrickKleyn">Patrick Kleyn</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Genomics, 1998</p><p class="ds-related-work--abstract ds2-5-body-sm">people worldwide (Kumar Singh et al., 1993). Among Retinitis pigmentosa (RP) is a heterogeneous ge-Caucasians in the United States, when not associated netic disorder with autosomal dominant, autosomal with other abnormalities, RP is inherited as an autosorecessive, and X-linked forms. We previously mapped mal recessive (arRP) disorder in 84% of cases, next as an additional arRP locus to chromosome 6p21 (RP14) an autosomal dominant (adRP) disorder in 10% of in a single extended kinship from the Dominican Recases, and as a X-linked recessive (XlRP) in 6% of cases public. Aided by a second linked RP pedigree from the (Boughman et al., 1980). same region of the Dominican Republic, we have re-Significant nonallelic heterogeneity has been obfined the disease locus to a 2-cM region that is homozyserved for RP, with over 15 loci mapped so far (reviewed gous-by-descent in both pedigrees. A complete YAC, by Dryja and Li, 1995). There are eight known loci for and a partial BAC, contig of the RP14 locus was con-adRP, six for arRP and four for XlRP. A common feastructed between the markers D6S1560 and D6S291, ture among the several known RP genes is their selecencompassing approximately 2.1 Mb. The contig contive expression in photoreceptor cells, where they entains 12 YACs and 31 BACs and is characterized by 45 code key components of the phototransduction cascade markers including 8 microsatellite markers, 6 genederived sequences/ESTs obtained from the databases, as well as integral membrane proteins of the photoreand 28 new STSs and 4 new ESTs obtained by BLAST ceptor outer segment. Mutations that cosegregate with search using DNA sequence from the ends of the BAC arRP have been reported in both the a-subunit (PDEA) and YAC inserts. With a STS density of approximately (Huang et al., 1995) and the b-subunit (PDEB) (Mc-1 every 20 kilobases, this contig significantly enhances</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":"Homozygosity and Physical Mapping of the Autosomal Recessive Retinitis Pigmentosa Locus (RP14) on Chromosome 6p21.3","attachmentId":70427765,"attachmentType":"pdf","work_url":"https://www.academia.edu/53712729/Homozygosity_and_Physical_Mapping_of_the_Autosomal_Recessive_Retinitis_Pigmentosa_Locus_RP14_on_Chromosome_6p21_3","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/53712729/Homozygosity_and_Physical_Mapping_of_the_Autosomal_Recessive_Retinitis_Pigmentosa_Locus_RP14_on_Chromosome_6p21_3"><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":44125669,"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":44125669,"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_44125669" 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="59829223" 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/59829223/Comprehensive_survey_of_mutations_in_RP2_and_RPGR_in_patients_affected_with_distinct_retinal_dystrophies_genotype_phenotype_correlations_and_impact_on_genetic_counseling">Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling</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="86906789" href="https://independent.academia.edu/JeanmichelRozet">Jean-michel Rozet</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Human Mutation, 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":"Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling","attachmentId":73549638,"attachmentType":"pdf","work_url":"https://www.academia.edu/59829223/Comprehensive_survey_of_mutations_in_RP2_and_RPGR_in_patients_affected_with_distinct_retinal_dystrophies_genotype_phenotype_correlations_and_impact_on_genetic_counseling","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/59829223/Comprehensive_survey_of_mutations_in_RP2_and_RPGR_in_patients_affected_with_distinct_retinal_dystrophies_genotype_phenotype_correlations_and_impact_on_genetic_counseling"><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 class="ds-related-content--container"><h2 class="ds-related-content--heading">Related topics</h2><div class="ds-research-interests--pills-container"><a class="js-related-research-interest ds-research-interests--pill" data-entity-id="2568" rel="nofollow" href="https://www.academia.edu/Documents/in/Medical_Genetics">Medical Genetics</a><a class="js-related-research-interest ds-research-interests--pill" data-entity-id="47884" rel="nofollow" href="https://www.academia.edu/Documents/in/Biological_Sciences">Biological Sciences</a><a class="js-related-research-interest ds-research-interests--pill" data-entity-id="2036633" rel="nofollow" href="https://www.academia.edu/Documents/in/Medical">Medical</a></div></div></div></div></div><div class="footer--content"><ul class="footer--main-links hide-on-mobile"><li><a href="https://www.academia.edu/about">About</a></li><li><a href="https://www.academia.edu/press">Press</a></li><li><a href="https://www.academia.edu/documents">Papers</a></li><li><a href="https://www.academia.edu/topics">Topics</a></li><li><a href="https://www.academia.edu/hiring"><svg style="width: 13px; 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