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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="fcXnR7DVWRZzgp9x3jUrfxoP529ToEyGkZsOjC30ugo6JgpBW_7Zb6GapHJUeauKiA2HuubiP_I3K0ZnWzrb6g" /> <meta name="citation_title" content="Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing" /> <meta name="citation_publication_date" content="2021" /> <meta name="citation_journal_title" content="Neurology Genetics" /> <meta name="citation_author" content="Jose-Alberto Palma" /> <meta name="citation_author" content="Rachita Yadav" /> <meta name="citation_author" content="Dadi Gao" /> <meta name="citation_author" content="Lucy Norcliffe-Kaufmann" /> <meta name="citation_author" content="Susan Slaugenhaupt" /> <meta name="citation_author" content="Horacio Kaufmann" /> <meta name="citation_volume" content="7" /> <meta name="citation_issue" content="2" /> <meta name="citation_firstpage" content="e568" /> <meta name="citation_issn" content="2376-7839" /> <meta name="twitter:card" content="summary" /> <meta name="twitter:url" content="https://www.academia.edu/86916335/Expanding_the_Genotypic_Spectrum_of_Congenital_Sensory_and_Autonomic_Neuropathies_Using_Whole_Exome_Sequencing" /> <meta name="twitter:title" content="Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing" /> <meta name="twitter:description" content="ObjectiveTo test the hypothesis that many patients presenting with congenital insensitivity to pain have lesser known or unidentified mutations not captured by conventional genetic panels, we performed whole-exome sequencing in a cohort of" /> <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/86916335/Expanding_the_Genotypic_Spectrum_of_Congenital_Sensory_and_Autonomic_Neuropathies_Using_Whole_Exome_Sequencing" /> <meta property="og:title" content="Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing" /> <meta property="og:image" content="http://a.academia-assets.com/images/open-graph-icons/fb-paper.gif" /> <meta property="og:description" content="ObjectiveTo test the hypothesis that many patients presenting with congenital insensitivity to pain have lesser known or unidentified mutations not captured by conventional genetic panels, we performed whole-exome sequencing in a cohort of" /> <meta property="article:author" content="https://dtu.academia.edu/RachitaYadav" /> <meta name="description" content="ObjectiveTo test the hypothesis that many patients presenting with congenital insensitivity to pain have lesser known or unidentified mutations not captured by conventional genetic panels, we performed whole-exome sequencing in a cohort of" /> <title>Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing</title> <link rel="canonical" href="https://www.academia.edu/86916335/Expanding_the_Genotypic_Spectrum_of_Congenital_Sensory_and_Autonomic_Neuropathies_Using_Whole_Exome_Sequencing" /> <script async src="https://www.googletagmanager.com/gtag/js?id=G-5VKX33P2DS"></script> <script> window.dataLayer = window.dataLayer || []; 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var $disableClientRecordHit = false; </script> <script> window.require = { config: function() { return function() {} } } </script> <script> window.Aedu = window.Aedu || {}; window.Aedu.hit_data = null; window.Aedu.serverRenderTime = new Date(1740958260000); window.Aedu.timeDifference = new Date().getTime() - 1740958260000; </script> <script type="application/ld+json">{"@context":"https://schema.org","@type":"ScholarlyArticle","abstract":"ObjectiveTo test the hypothesis that many patients presenting with congenital insensitivity to pain have lesser known or unidentified mutations not captured by conventional genetic panels, we performed whole-exome sequencing in a cohort of well-characterized patients with a clinical diagnosis of congenital hereditary sensory and autonomic neuropathy with unrevealing conventional genetic testing.MethodsWe performed whole-exome sequencing (WES) in 13 patients with congenital impaired or absent sensation to pain and temperature with no identified molecular diagnosis from a conventional genetic panel. Patients underwent a comprehensive phenotypic assessment including autonomic function testing, and neurologic and ophthalmologic examinations.ResultsWe identified known or likely pathogenic genetic causes of congenital insensitivity to pain in all 13 patients, spanning 9 genes, the vast majority of which were inherited in an autosomal recessive manner. These included known pathogenic varia...","author":[{"@context":"https://schema.org","@type":"Person","name":"Rachita Yadav","url":"https://dtu.academia.edu/RachitaYadav","sameAs":[]}],"contributor":[],"dateCreated":"2022-09-19","dateModified":"2025-02-01","datePublished":"2021-01-01","headline":"Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing","image":"https://attachments.academia-assets.com/91263829/thumbnails/1.jpg","inLanguage":"en","keywords":["Medicine","Exome Sequencing"],"publication":"Neurology Genetics","publisher":{"@context":"https://schema.org","@type":"Organization","name":"Ovid Technologies (Wolters Kluwer Health)"},"sourceOrganization":[{"@context":"https://schema.org","@type":"EducationalOrganization","name":"dtu"}],"thumbnailUrl":"https://attachments.academia-assets.com/91263829/thumbnails/1.jpg","url":"https://www.academia.edu/86916335/Expanding_the_Genotypic_Spectrum_of_Congenital_Sensory_and_Autonomic_Neuropathies_Using_Whole_Exome_Sequencing"}</script><style type="text/css">@media(max-width: 567px){:root{--token-mode: Rebrand;--dropshadow: 0 2px 4px 0 #22223340;--primary-brand: #0645b1;--error-dark: #b60000;--success-dark: #05b01c;--inactive-fill: #ebebee;--hover: #0c3b8d;--pressed: #082f75;--button-primary-fill-inactive: #ebebee;--button-primary-fill: #0645b1;--button-primary-text: #ffffff;--button-primary-fill-hover: #0c3b8d;--button-primary-fill-press: #082f75;--button-primary-icon: #ffffff;--button-primary-fill-inverse: #ffffff;--button-primary-text-inverse: #082f75;--button-primary-icon-inverse: #0645b1;--button-primary-fill-inverse-hover: 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window.loswp.showSignupCaptcha = false window.loswp.willEdgeCache = false; window.loswp.work = {"work":{"id":86916335,"created_at":"2022-09-19T09:01:50.184-07:00","from_world_paper_id":215366146,"updated_at":"2025-02-01T11:11:47.808-08:00","_data":{"abstract":"ObjectiveTo test the hypothesis that many patients presenting with congenital insensitivity to pain have lesser known or unidentified mutations not captured by conventional genetic panels, we performed whole-exome sequencing in a cohort of well-characterized patients with a clinical diagnosis of congenital hereditary sensory and autonomic neuropathy with unrevealing conventional genetic testing.MethodsWe performed whole-exome sequencing (WES) in 13 patients with congenital impaired or absent sensation to pain and temperature with no identified molecular diagnosis from a conventional genetic panel. Patients underwent a comprehensive phenotypic assessment including autonomic function testing, and neurologic and ophthalmologic examinations.ResultsWe identified known or likely pathogenic genetic causes of congenital insensitivity to pain in all 13 patients, spanning 9 genes, the vast majority of which were inherited in an autosomal recessive manner. These included known pathogenic varia...","publisher":"Ovid Technologies (Wolters Kluwer Health)","ai_title_tag":"WES Reveals Genetic Causes of Pain Insensitivity","publication_date":"2021,,","publication_name":"Neurology Genetics"},"document_type":"paper","pre_hit_view_count_baseline":null,"quality":"high","language":"en","title":"Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing","broadcastable":false,"draft":null,"has_indexable_attachment":true,"indexable":true,"seo_quality":null}}["work"]; window.loswp.workCoauthors = [38559375]; 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":91263829,"attachmentType":"pdf"}"><img alt="First page of “Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing”" class="ds-work-cover--cover-thumbnail" src="https://0.academia-photos.com/attachment_thumbnails/91263829/mini_magick20220919-1-gc1uuk.png?1663603414" /><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">Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-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="38559375" href="https://dtu.academia.edu/RachitaYadav"><img alt="Profile image of Rachita Yadav" class="ds-work-card--author-avatar" src="//a.academia-assets.com/images/s65_no_pic.png" />Rachita Yadav</a></div><div class="ds-work-card--detail"><p class="ds-work-card--detail ds2-5-body-sm">2021, Neurology 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">11 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 = 86916335; 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Patients underwent a comprehensive phenotypic assessment including autonomic function testing, and neurologic and ophthalmologic examinations.ResultsWe identified known or likely pathogenic genetic causes of congenital insensitivity to pain in all 13 patients, spanning 9 genes, the vast majority of which were inherited in an autosomal recessive manner. These included known pathogenic varia...</p><div class="ds-work-card--button-container"><div class="primary-buttons "><button class="ds2-5-button js-swp-download-button" data-signup-modal="{"location":"continue-reading-button--work-card","attachmentId":91263829,"attachmentType":"pdf","workUrl":"https://www.academia.edu/86916335/Expanding_the_Genotypic_Spectrum_of_Congenital_Sensory_and_Autonomic_Neuropathies_Using_Whole_Exome_Sequencing"}"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">description</span>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":91263829,"attachmentType":"pdf","workUrl":"https://www.academia.edu/86916335/Expanding_the_Genotypic_Spectrum_of_Congenital_Sensory_and_Autonomic_Neuropathies_Using_Whole_Exome_Sequencing"}"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">download</span>Download PDF</button></div></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" data-impression-entity-id="86916335" data-impression-entity-type="2" data-impression-source="signup-banner"><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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Due to the rarity of the diseases and findings based mainly on single case reports or small case series, knowledge about these disorders is limited. Here, we describe the molecular workup of a large international cohort of CIP/HSAN patients including patients from normally under-represented countries. We identify 80 previously unreported pathogenic or likely pathogenic variants in a total of 73 families in the &gt;20 known CIP/HSAN-associated genes. The data expand the spectrum of disease-relevant alterations in CIP/HSAN, including novel variants in previously rarely recognized entities such as ATL3-, FLVCR1- and NGF-associated neuropathies and previously under-recognized mutation types such as larger deletions. In silico predictions, heterologous expression stu...</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":"Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies","attachmentId":108340020,"attachmentType":"pdf","work_url":"https://www.academia.edu/110559925/Genetic_landscape_of_congenital_insensitivity_to_pain_and_hereditary_sensory_and_autonomic_neuropathies","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/110559925/Genetic_landscape_of_congenital_insensitivity_to_pain_and_hereditary_sensory_and_autonomic_neuropathies"><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="20371489" 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/20371489/Genes_for_hereditary_sensory_and_autonomic_neuropathies_a_genotype_phenotype_correlation">Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation</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="41719854" href="https://independent.academia.edu/VincentTimmerman">Vincent Timmerman</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Brain, 2009</p><p class="ds-related-work--abstract ds2-5-body-sm">Hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders characterized by axonal atrophy and degeneration, exclusively or predominantly affecting the sensory and autonomic neurons. So far, diseaseassociated mutations have been identified in seven genes: two genes for autosomal dominant (SPTLC1 and RAB7) and five genes for autosomal recessive forms of HSAN (WNK1/HSN2, NTRK1, NGFB, CCT5 and IKBKAP). We performed a systematic mutation screening of the coding sequences of six of these genes on a cohort of 100 familial and isolated patients diagnosed with HSAN. In addition, we screened the functional candidate gene NGFR (p75/NTR) encoding the nerve growth factor receptor. We identified disease-causing mutations in SPTLC1, RAB7, WNK1/HSN2 and NTRK1 in 19 patients, of which three mutations have not previously been reported. The phenotypes associated with mutations in NTRK1 and WNK1/HSN2 typically consisted of congenital insensitivity to pain and anhidrosis, and early-onset ulcero-mutilating sensory neuropathy, respectively. RAB7 mutations were only found in patients with a Charcot-Marie-Tooth type 2B (CMT2B) phenotype, an axonal sensorymotor neuropathy with pronounced ulcero-mutilations. In SPTLC1, we detected a novel mutation (S331F) corresponding to a previously unknown severe and early-onset HSAN phenotype. No mutations were found in NGFB, CCT5 and NGFR.</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":"Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation","attachmentId":41321051,"attachmentType":"pdf","work_url":"https://www.academia.edu/20371489/Genes_for_hereditary_sensory_and_autonomic_neuropathies_a_genotype_phenotype_correlation","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/20371489/Genes_for_hereditary_sensory_and_autonomic_neuropathies_a_genotype_phenotype_correlation"><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="23790762" 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/23790762/Improved_inherited_peripheral_neuropathy_genetic_diagnosis_by_whole_exome_sequencing">Improved inherited peripheral neuropathy genetic diagnosis by whole-exome 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="45955266" href="https://independent.academia.edu/GarthNicholson">Garth Nicholson</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Molecular Genetics & Genomic Medicine, 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":"Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing","attachmentId":44219745,"attachmentType":"pdf","work_url":"https://www.academia.edu/23790762/Improved_inherited_peripheral_neuropathy_genetic_diagnosis_by_whole_exome_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/23790762/Improved_inherited_peripheral_neuropathy_genetic_diagnosis_by_whole_exome_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="3" data-entity-id="61761936" 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/61761936/Genes_for_hereditary_sensory_and_autonomic_neuropathies_frequency_in_a_UK_series_and_genotype_phenotype_correlations">Genes for hereditary sensory and autonomic neuropathies: frequency in a UK series and genotype-phenotype correlations</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="57379371" href="https://independent.academia.edu/sarasebnemkilic">sara sebnem kilic</a></div><p class="ds-related-work--metadata ds2-5-body-xs">2010</p><p class="ds-related-work--abstract ds2-5-body-sm">Hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders characterized by axonal atrophy and degeneration, exclusively or predominantly affecting the sensory and autonomic neurons. So far, diseaseassociated mutations have been identified in seven genes: two genes for autosomal dominant (SPTLC1 and RAB7) and five genes for autosomal recessive forms of HSAN (WNK1/HSN2, NTRK1, NGFB, CCT5 and IKBKAP). We performed a systematic mutation screening of the coding sequences of six of these genes on a cohort of 100 familial and isolated patients diagnosed with HSAN. In addition, we screened the functional candidate gene NGFR (p75/NTR) encoding the nerve growth factor receptor. We identified disease-causing mutations in SPTLC1, RAB7, WNK1/HSN2 and NTRK1 in 19 patients, of which three mutations have not previously been reported. The phenotypes associated with mutations in NTRK1 and WNK1/HSN2 typically consisted of congenital insensitivity to pain and anhidrosis, and early-onset ulcero-mutilating sensory neuropathy, respectively. RAB7 mutations were only found in patients with a Charcot-Marie-Tooth type 2B (CMT2B) phenotype, an axonal sensorymotor neuropathy with pronounced ulcero-mutilations. In SPTLC1, we detected a novel mutation (S331F) corresponding to a previously unknown severe and early-onset HSAN phenotype. No mutations were found in NGFB, CCT5 and NGFR.</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":"Genes for hereditary sensory and autonomic neuropathies: frequency in a UK series and genotype-phenotype correlations","attachmentId":74716029,"attachmentType":"pdf","work_url":"https://www.academia.edu/61761936/Genes_for_hereditary_sensory_and_autonomic_neuropathies_frequency_in_a_UK_series_and_genotype_phenotype_correlations","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/61761936/Genes_for_hereditary_sensory_and_autonomic_neuropathies_frequency_in_a_UK_series_and_genotype_phenotype_correlations"><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="4699802" 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/4699802/Frequency_of_mutations_in_the_genes_associated_with_hereditary_sensory_and_autonomic_neuropathy_in_a_UK_cohort">Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort</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="5991976" href="https://ucl.academia.edu/GitaRamdharry">Gita M Ramdharry</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Journal of neurology, 2012</p><p class="ds-related-work--abstract ds2-5-body-sm">The hereditary sensory and autonomic neuropathies (HSAN, also known as the hereditary sensory neuropathies) are a clinically and genetically heterogeneous group of disorders, characterised by a progressive sensory neuropathy often complicated by ulcers and amputations, with variable motor and autonomic involvement. To date, mutations in twelve genes have been identified as causing HSAN. To study the frequency of mutations in these genes and the associated phenotypes, we screened 140 index patients in our inherited neuropathy cohort with a clinical diagnosis of HSAN for mutations in the coding regions of SPTLC1, RAB7, WNK1/HSN2, FAM134B, NTRK1 (TRKA) and NGFB. We identified 25 index patients with mutations in six genes associated with HSAN (SPTLC1, RAB7, WNK1/HSN2, FAM134B, NTRK1 and NGFB); 20 of which appear to be pathogenic giving an overall mutation frequency of 14.3%. Mutations in the known genes for HSAN are rare suggesting that further HSAN genes are yet to be identified. The p.Cys133Trp mutation in SPTLC1 is the most common cause of HSAN in the UK population and should be screened first in all patients with sporadic or autosomal dominant HSAN.</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":"Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort","attachmentId":49679459,"attachmentType":"pdf","work_url":"https://www.academia.edu/4699802/Frequency_of_mutations_in_the_genes_associated_with_hereditary_sensory_and_autonomic_neuropathy_in_a_UK_cohort","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/4699802/Frequency_of_mutations_in_the_genes_associated_with_hereditary_sensory_and_autonomic_neuropathy_in_a_UK_cohort"><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="56909580" 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/56909580/Exome_Sequence_Analysis_Suggests_that_Genetic_Burden_Contributes_to_Phenotypic_Variability_and_Complex_Neuropathy">Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy</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="83451" href="https://boun.academia.edu/EsraBattaloglu">Esra Battaloglu</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Cell reports, 2015</p><p class="ds-related-work--abstract ds2-5-body-sm">Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous distal symmetric polyneuropathy. Whole-exome sequencing (WES) of 40 individuals from 37 unrelated families with CMT-like peripheral neuropathy refractory to molecular diagnosis identified apparent causal mutations in ∼45% (17/37) of families. Three candidate disease genes are proposed, supported by a combination of genetic and in vivo studies. Aggregate analysis of mutation data revealed a significantly increased number of rare variants across 58 neuropathy-associated genes in subjects versus controls, confirmed in a second ethnically discrete neuropathy cohort, suggesting that mutation burden potentially contributes to phenotypic variability. Neuropathy genes shown to have highly penetrant Mendelizing variants (HPMVs) and implicated by burden in families were shown to interact genetically in a zebrafish assay exacerbating the phenotype established by the suppression of single genes. Our findings suggest...</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 Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy","attachmentId":72064185,"attachmentType":"pdf","work_url":"https://www.academia.edu/56909580/Exome_Sequence_Analysis_Suggests_that_Genetic_Burden_Contributes_to_Phenotypic_Variability_and_Complex_Neuropathy","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/56909580/Exome_Sequence_Analysis_Suggests_that_Genetic_Burden_Contributes_to_Phenotypic_Variability_and_Complex_Neuropathy"><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="55039988" 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/55039988/Molecular_Diagnosis_of_Hereditary_Neuropathies_by_Whole_Exome_Sequencing_and_Expanding_the_Phenotype_Spectrum">Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum</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="42106596" href="https://uswr.academia.edu/MarziehMohseni">Marzieh Mohseni</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Archives of Iranian Medicine</p><p class="ds-related-work--abstract ds2-5-body-sm">Background: Inherited peripheral neuropathies (IPNs) are a group of neuropathies affecting peripheral motor and sensory neurons. Charcot-Marie-Tooth (CMT) disease is the most common disease in this group. With recent advances in next-generation sequencing (NGS) technologies, more than 100 genes have been implicated for different types of CMT and other clinically and genetically inherited neuropathies. There are also a number of genes where neuropathy is a major feature of the disease such as spinocerebellar ataxia (SCA) and hereditary spastic paraplegia (HSP). We aimed to determine the genetic causes underlying IPNs in Iranian families. Methods: We performed whole exome sequencing (WES) for 58 PMP22 deletion-/duplication-negative unrelated Iranian patients with a spectrum of phenotypes and with a preliminary diagnosis of hereditary neuropathies. Results: Twenty-seven (46.6%) of the cases were genetically diagnosed with pathogenic or likely pathogenic variants. In this study, we iden...</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":"Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum","attachmentId":71105405,"attachmentType":"pdf","work_url":"https://www.academia.edu/55039988/Molecular_Diagnosis_of_Hereditary_Neuropathies_by_Whole_Exome_Sequencing_and_Expanding_the_Phenotype_Spectrum","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/55039988/Molecular_Diagnosis_of_Hereditary_Neuropathies_by_Whole_Exome_Sequencing_and_Expanding_the_Phenotype_Spectrum"><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="16873595" 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/16873595/Whole_exome_sequencing_in_patients_with_inherited_neuropathies_outcome_and_challenges">Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges</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="36346493" href="https://independent.academia.edu/SlaveTrajanoski">Slave Trajanoski</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Journal of Neurology, 2014</p><p class="ds-related-work--abstract ds2-5-body-sm">Inherited peripheral neuropathies (IPN) are one of the most frequent inherited causes of neurological disability characterized by considerable phenotypic and genetic heterogeneity. Based on clinical and electrophysiological properties, they can be subdivided into three main groups: HMSN, dHMN, and HSN. At present, more than 50 IPN genes have been identified. Still, many patients and families with IPN have not yet received a molecular genetic diagnosis because clinical genetic testing usually only covers a subset of IPN genes. Moreover, a considerable proportion of IPN genes has to be identified.</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":"Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges","attachmentId":39231149,"attachmentType":"pdf","work_url":"https://www.academia.edu/16873595/Whole_exome_sequencing_in_patients_with_inherited_neuropathies_outcome_and_challenges","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/16873595/Whole_exome_sequencing_in_patients_with_inherited_neuropathies_outcome_and_challenges"><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="20371645" 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/20371645/Mechanisms_of_disease_in_hereditary_sensory_and_autonomic_neuropathies">Mechanisms of disease in hereditary sensory and autonomic neuropathies</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="41719854" href="https://independent.academia.edu/VincentTimmerman">Vincent Timmerman</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Nature reviews. Neurology, 2012</p><p class="ds-related-work--abstract ds2-5-body-sm">Hereditary sensory and autonomic neuropathies (HSANs) are a clinically and genetically heterogeneous group of disorders of the PNS. Progressive degeneration, predominantly of sensory and autonomic neurons, is the main pathological feature in patients with HSAN, and causes prominent sensory loss and ulcerative mutilations in combination with variable autonomic and motor disturbances. Advances in molecular genetics have enabled identification of disease-causing mutations in 12 genes, and studies on the functional effects of these mutations are underway. Although some of the affected proteins--such as nerve growth factor and its receptor--have obvious nerve-specific roles, others are ubiquitously expressed proteins that are involved in sphingolipid metabolism, vesicular transport, transcription regulation and structural integrity. An important challenge in the future will be to understand the common molecular pathways that result in HSANs. Unraveling the mechanisms that underlie sensor...</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":"Mechanisms of disease in hereditary sensory and autonomic neuropathies","attachmentId":41321150,"attachmentType":"pdf","work_url":"https://www.academia.edu/20371645/Mechanisms_of_disease_in_hereditary_sensory_and_autonomic_neuropathies","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/20371645/Mechanisms_of_disease_in_hereditary_sensory_and_autonomic_neuropathies"><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="110734205" 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/110734205/De_novo_pathogenic_DNM1L_variant_in_a_patient_diagnosed_with_atypical_hereditary_sensory_and_autonomic_neuropathy">De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy</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="250682462" href="https://independent.academia.edu/AnnSaadaReisch">Ann Saada</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Molecular Genetics &amp; Genomic Medicine, 2019</p><p class="ds-related-work--abstract ds2-5-body-sm">BackgroundProfiling the entire genome at base pair resolution in a single test offers novel insights into disease by means of dissection of genetic contributors to phenotypic features.MethodsWe performed genome sequencing for a patient who presented with atypical hereditary sensory and autonomic neuropathy, severe epileptic encephalopathy, global developmental delay, and growth hormone deficiency.ResultsAssessment of the variants detected by mapped sequencing reads followed by Sanger confirmation revealed that the proband is a compound heterozygote for rare variants within RETREG1 (FAM134B), a gene associated with a recessive form of hereditary sensory and autonomic neuropathy, but not with epileptic encephalopathy or global developmental delay. Further analysis of the data also revealed a heterozygous missense variant in DNM1L, a gene previously implicated in an autosomal dominant encephalopathy, epilepsy, and global developmental delay and confirmed by Sanger sequencing to be a de...</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":"De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy","attachmentId":108459895,"attachmentType":"pdf","work_url":"https://www.academia.edu/110734205/De_novo_pathogenic_DNM1L_variant_in_a_patient_diagnosed_with_atypical_hereditary_sensory_and_autonomic_neuropathy","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/110734205/De_novo_pathogenic_DNM1L_variant_in_a_patient_diagnosed_with_atypical_hereditary_sensory_and_autonomic_neuropathy"><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":91263829,"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":91263829,"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_91263829" 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="55755514" 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/55755514/Expanding_the_genotype_phenotype_correlation_of_childhood_sensory_polyneuropathy_of_genetic_origin">Expanding the genotype–phenotype correlation of childhood sensory polyneuropathy of genetic origin</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="40946501" href="https://nanyang.academia.edu/SamyaChakravorty">Samya Chakravorty</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Scientific Reports</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":"Expanding the genotype–phenotype correlation of childhood sensory polyneuropathy of genetic origin","attachmentId":71475842,"attachmentType":"pdf","work_url":"https://www.academia.edu/55755514/Expanding_the_genotype_phenotype_correlation_of_childhood_sensory_polyneuropathy_of_genetic_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-related-work-grid-card-view-pdf" href="https://www.academia.edu/55755514/Expanding_the_genotype_phenotype_correlation_of_childhood_sensory_polyneuropathy_of_genetic_origin"><span class="ds2-5-text-link__content">View 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