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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="PQlDD88nUGRjvec06BXEF6RRNdS2P--YpZz81pqffz5pxBDVGsreJLOFnD2lOFMT_pfD0AndT4ViUzsWtduGlQ" /> <meta name="citation_title" content="Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders" /> <meta name="citation_publication_date" content="2021/01/01" /> <meta name="citation_journal_title" content="Clinical Genetics" /> <meta name="citation_author" content="Juliette Dupont" /> <meta name="citation_author" content="José Pedro Vieira" /> <meta name="citation_author" content="Ana Lisa Taylor Tavares" /> <meta name="citation_author" content="Carla Ribeiro Conceição" /> <meta name="citation_author" content="Suliman Khan" /> <meta name="citation_author" content="Aida Maria Bertoli‐Avella" /> <meta name="citation_author" content="Ana Berta Sousa" /> <meta name="citation_volume" content="99" /> <meta name="citation_issue" content="4" /> <meta name="citation_firstpage" content="588-593" /> <meta name="citation_issn" content="0009-9163" /> <meta name="twitter:card" content="summary" /> <meta name="twitter:url" content="https://www.academia.edu/84769067/Adding_evidence_to_the_role_of_NEUROG1_in_congenital_cranial_dysinnervation_disorders" /> <meta name="twitter:title" content="Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders" /> <meta name="twitter:description" content="Congenital cranial dysinnervation disorders (CCDDs) are a heterogeneous group of neurodevelopmental phenotypes caused by a primary disturbance of innervation due to deficient, absent, or misguided cranial nerves. Although some CCDDs genes are known," /> <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/84769067/Adding_evidence_to_the_role_of_NEUROG1_in_congenital_cranial_dysinnervation_disorders" /> <meta property="og:title" content="Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders" /> <meta property="og:image" content="http://a.academia-assets.com/images/open-graph-icons/fb-paper.gif" /> <meta property="og:description" content="Congenital cranial dysinnervation disorders (CCDDs) are a heterogeneous group of neurodevelopmental phenotypes caused by a primary disturbance of innervation due to deficient, absent, or misguided cranial nerves. Although some CCDDs genes are known," /> <meta property="article:author" content="https://independent.academia.edu/SulimanKhan16" /> <meta name="description" content="Congenital cranial dysinnervation disorders (CCDDs) are a heterogeneous group of neurodevelopmental phenotypes caused by a primary disturbance of innervation due to deficient, absent, or misguided cranial nerves. Although some CCDDs genes are known," /> <title>(PDF) Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders</title> <link rel="canonical" href="https://www.academia.edu/77951984/Adding_evidence_to_the_role_of_NEUROG1_in_congenital_cranial_dysinnervation_disorders" /> <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 form <ab_test_name>:<bucket> 'ab_test_bucket': null, }) </script> <script> var $controller_name = 'single_work'; var $action_name = "show"; var $rails_env = 'production'; var $app_rev = '107520bac59918e2ceae62eaadd15bff3d1e7904'; var $domain = 'academia.edu'; var $app_host = "academia.edu"; var $asset_host = "academia-assets.com"; var $start_time = new Date().getTime(); var $recaptcha_key = "6LdxlRMTAAAAADnu_zyLhLg0YF9uACwz78shpjJB"; var $recaptcha_invisible_key = "6Lf3KHUUAAAAACggoMpmGJdQDtiyrjVlvGJ6BbAj"; 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(1740873278000); window.Aedu.timeDifference = new Date().getTime() - 1740873278000; </script> <script type="application/ld+json">{"@context":"https://schema.org","@type":"ScholarlyArticle","abstract":"Congenital cranial dysinnervation disorders (CCDDs) are a heterogeneous group of neurodevelopmental phenotypes caused by a primary disturbance of innervation due to deficient, absent, or misguided cranial nerves. Although some CCDDs genes are known, several clinical phenotypes and their aetiologies remain to be elucidated. We describe a 12‐year‐old boy with hypotonia, developmental delay, sensorineural hearing loss, and keratoconjunctivitis due to lack of corneal reflex. He had a long expressionless face, severe oromotor dysfunction, bilateral agenesis/severe hypoplasia of the VIII nerve with marked atresia of the internal auditory canals and cochlear labyrinth malformation. Trio‐exome sequencing identified a homozygous loss of function variant in the NEUROG1 gene (NM_006161.2: c.202G \u0026amp;amp;gt; T, p.Glu68*). NEUROG1 is considered a causal candidate for CCDDs based on (i) the previous report of a patient with a homozygous gene deletion and developmental delay, deafness due to absent bilat...","author":[{"@context":"https://schema.org","@type":"Person","name":"Suliman Khan","url":"https://independent.academia.edu/SulimanKhan16","sameAs":[]}],"contributor":[],"dateCreated":"2022-08-15","dateModified":"2022-08-15","datePublished":"2021-01-01","headline":"Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders","image":"https://attachments.academia-assets.com/89678060/thumbnails/1.jpg","inLanguage":"en","keywords":["Medicine","Clinical Genetics","Wiley"],"publication":"Clinical Genetics","publisher":{"@context":"https://schema.org","@type":"Organization","name":"Clinical genetics"},"sourceOrganization":[{"@context":"https://schema.org","@type":"EducationalOrganization","name":null}],"thumbnailUrl":"https://attachments.academia-assets.com/89678060/thumbnails/1.jpg","url":"https://www.academia.edu/84769067/Adding_evidence_to_the_role_of_NEUROG1_in_congenital_cranial_dysinnervation_disorders"}</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: #cddaef;--button-primary-stroke-inverse-pressed: 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false; window.loswp.work = {"work":{"id":84769067,"created_at":"2022-08-15T01:30:46.653-07:00","from_world_paper_id":212585647,"updated_at":"2023-05-20T09:31:29.897-07:00","_data":{"abstract":"Congenital cranial dysinnervation disorders (CCDDs) are a heterogeneous group of neurodevelopmental phenotypes caused by a primary disturbance of innervation due to deficient, absent, or misguided cranial nerves. Although some CCDDs genes are known, several clinical phenotypes and their aetiologies remain to be elucidated. We describe a 12‐year‐old boy with hypotonia, developmental delay, sensorineural hearing loss, and keratoconjunctivitis due to lack of corneal reflex. He had a long expressionless face, severe oromotor dysfunction, bilateral agenesis/severe hypoplasia of the VIII nerve with marked atresia of the internal auditory canals and cochlear labyrinth malformation. Trio‐exome sequencing identified a homozygous loss of function variant in the NEUROG1 gene (NM_006161.2: c.202G \u0026gt; T, p.Glu68*). NEUROG1 is considered a causal candidate for CCDDs based on (i) the previous report of a patient with a homozygous gene deletion and developmental delay, deafness due to absent bilat...","publisher":"Clinical genetics","publication_date":"2021,,","publication_name":"Clinical Genetics"},"document_type":"paper","pre_hit_view_count_baseline":null,"quality":"high","language":"en","title":"Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders","broadcastable":true,"draft":null,"has_indexable_attachment":true,"indexable":true,"seo_quality":null}}["work"]; window.loswp.workCoauthors = [80368070]; 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":89678060,"attachmentType":"pdf"}"><img alt="First page of “Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders”" class="ds-work-cover--cover-thumbnail" src="https://0.academia-photos.com/attachment_thumbnails/89678060/mini_magick20220815-1-563k5w.png?1660552413" /><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">Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders</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="80368070" href="https://independent.academia.edu/SulimanKhan16"><img alt="Profile image of Suliman Khan" class="ds-work-card--author-avatar" src="//a.academia-assets.com/images/s65_no_pic.png" />Suliman Khan</a></div><div class="ds-work-card--detail"><p class="ds-work-card--detail ds2-5-body-sm">2021, Clinical 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">6 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 = 84769067; 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Although some CCDDs genes are known, several clinical phenotypes and their aetiologies remain to be elucidated. We describe a 12‐year‐old boy with hypotonia, developmental delay, sensorineural hearing loss, and keratoconjunctivitis due to lack of corneal reflex. He had a long expressionless face, severe oromotor dysfunction, bilateral agenesis/severe hypoplasia of the VIII nerve with marked atresia of the internal auditory canals and cochlear labyrinth malformation. Trio‐exome sequencing identified a homozygous loss of function variant in the NEUROG1 gene (NM_006161.2: c.202G &gt; T, p.Glu68*). NEUROG1 is considered a causal candidate for CCDDs based on (i) the previous report of a patient with a homozygous gene deletion and developmental delay, deafness due to absent bilat...</p></div></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="126177660" 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/126177660/Adding_evidence_to_the_role_of_scp_i_NEUROG1_i_scp_in_congenital_cranial_dysinnervation_disorders">Adding evidence to the role of <scp> <i>NEUROG1</i> </scp> in congenital cranial dysinnervation disorders</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="51961573" href="https://independent.academia.edu/AnaBertaSousa">Ana Berta Sousa</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Clinical Genetics, 2021</p><p class="ds-related-work--abstract ds2-5-body-sm">Congenital cranial dysinnervation disorders (CCDDs) are a heterogeneous group of neurodevelopmental phenotypes caused by a primary disturbance of innervation due to deficient, absent, or misguided cranial nerves. Although some CCDDs genes are known, several clinical phenotypes and their aetiologies remain to be elucidated. We describe a 12-year-old boy with hypotonia, developmental delay, sensorineural hearing loss, and keratoconjunctivitis due to lack of corneal reflex. He had a long expressionless face, severe oromotor dysfunction, bilateral agenesis/severe hypoplasia of</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":"Adding evidence to the role of \u003cscp\u003e \u003ci\u003eNEUROG1\u003c/i\u003e \u003c/scp\u003e in congenital cranial dysinnervation disorders","attachmentId":120094408,"attachmentType":"pdf","work_url":"https://www.academia.edu/126177660/Adding_evidence_to_the_role_of_scp_i_NEUROG1_i_scp_in_congenital_cranial_dysinnervation_disorders","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/126177660/Adding_evidence_to_the_role_of_scp_i_NEUROG1_i_scp_in_congenital_cranial_dysinnervation_disorders"><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="26577427" 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/26577427/A_boy_with_homozygous_microdeletion_of_NEUROG1_presents_with_a_congenital_cranial_dysinnervation_disorder_Moebius_syndrome_variant_">A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant]</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="50559046" href="https://independent.academia.edu/OliverBartsch">Oliver Bartsch</a><span>, </span><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="50575415" href="https://independent.academia.edu/DanutaGaletzka">Danuta Galetzka</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Behavioral and Brain Functions, 2013</p><p class="ds-related-work--abstract ds2-5-body-sm">We report on a 6-year-old Turkish boy with profound sensorineural deafness, balance disorder, severe disorder of oral motor function, and mild developmental delay. Further findings included scaphocephaly, plagiocephaly, long palpebral fissures, high narrow palate, low-set posteriorly rotated ears, torticollis, hypoplastic genitalia and faulty foot posture. Parents were consanguineous. Methods and results: Computed tomography and magnetic resonance imaging showed bilateral single widened cochlear turn, narrowing of the internal auditory canal, and bilateral truncation of the vestibulo-cochlear nerve. Microarray analysis and next generation sequencing showed a homozygous deletion of chromosome 5q31.1 spanning 115.3 kb and including three genes: NEUROG1 (encoding neurogenin 1), DCNP1 (dendritic cell nuclear protein 1, C5ORF20) and TIFAB (TIFA-related protein). The inability to chew and swallow, deafness and balance disorder represented congenital palsies of cranial nerves V (trigeminal nerve) and VIII (vestibulo-cochlear nerve) and thus a congenital cranial dysinnervation disorder.</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 boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant]","attachmentId":46869592,"attachmentType":"pdf","work_url":"https://www.academia.edu/26577427/A_boy_with_homozygous_microdeletion_of_NEUROG1_presents_with_a_congenital_cranial_dysinnervation_disorder_Moebius_syndrome_variant_","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/26577427/A_boy_with_homozygous_microdeletion_of_NEUROG1_presents_with_a_congenital_cranial_dysinnervation_disorder_Moebius_syndrome_variant_"><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="115017174" 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/115017174/Congenital_cranial_dysinnervation_disorders_and_more">Congenital cranial dysinnervation disorders and more</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="98941795" href="https://independent.academia.edu/EliasTraboulsi">Elias Traboulsi</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Journal of Aapos, 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":"Congenital cranial dysinnervation disorders and more","attachmentId":111548692,"attachmentType":"pdf","work_url":"https://www.academia.edu/115017174/Congenital_cranial_dysinnervation_disorders_and_more","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/115017174/Congenital_cranial_dysinnervation_disorders_and_more"><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="71212339" 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/71212339/Shifting_Paradigms_in_the_Etio_Pathogenesis_of_Congenital_Cranial_Dysinnervation_Syndrome_CCDD_">Shifting Paradigms in the Etio-Pathogenesis of Congenital Cranial Dysinnervation Syndrome ( CCDD )</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="32574084" href="https://du-in.academia.edu/ZiaChaudhuri">Zia Chaudhuri</a></div><p class="ds-related-work--metadata ds2-5-body-xs">2016</p><p class="ds-related-work--abstract ds2-5-body-sm">The concept of “congenital fibrosis of the extra ocular muscles” (CFEOM) was proposed in view of increasingly common observation by the ophthalmologists where in it was noticed that many children born with disorders of ocular motility had fibrotic extra ocular muscles pointing to a myogenic pathology abnormal neuronal development [1-4]. However there was a shift in the opinion relating to etio-pathogenesis and a neurogenic and genetic basis was emphasized for these group of ocular motility disorders that share common features of dysinnervation to the ocular and facial musculature presently termed as the “congenital cranial dysinnervation disorders” by Gutowski et al., in 2003 [4]. These cases at times pose a diagnostic challenge because of a conserved partial or anomalous paradoxical innervation to the muscles which result in different combinations of involuntary eye movements.</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":"Shifting Paradigms in the Etio-Pathogenesis of Congenital Cranial Dysinnervation Syndrome ( CCDD )","attachmentId":80655883,"attachmentType":"pdf","work_url":"https://www.academia.edu/71212339/Shifting_Paradigms_in_the_Etio_Pathogenesis_of_Congenital_Cranial_Dysinnervation_Syndrome_CCDD_","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/71212339/Shifting_Paradigms_in_the_Etio_Pathogenesis_of_Congenital_Cranial_Dysinnervation_Syndrome_CCDD_"><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="75076405" 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/75076405/De_novo_and_biallelic_DEAF1_variants_cause_a_phenotypic_spectrum">De novo and biallelic DEAF1 variants cause a phenotypic 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="38460521" href="https://independent.academia.edu/NaamaOrenstein">Naama Orenstein</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Genetics in Medicine</p><p class="ds-related-work--abstract ds2-5-body-sm">Purpose: To investigate the effect of different DEAF1 variants on the phenotype of patients with autosomal dominant and recessive inheritance patterns and on DEAF1 activity in vitro. Methods: We assembled a cohort of 23 patients with de novo and biallelic DEAF1 variants, described the genotype-phenotype correlation, and investigated the differential effect of de novo and recessive variants on transcription assays using DEAF1 and Eif4g3 promoter luciferase constructs. Results: The proportion of the most prevalent phenotypic features, including intellectual disability, speech delay, motor delay, autism, sleep disturbances, and a high pain threshold, were not significantly different in patients with biallelic and pathogenic de novo DEAF1 variants. However, microcephaly was exclusively observed in patients with recessive variants (p < 0.0001). Conclusion: We propose that different variants in the DEAF1 gene result in a phenotypic spectrum centered around neurodevelopmental delay. While a pathogenic de novo dominant variant would also incapacitate the product of the wild-type allele and result in a dominant-negative effect, a combination of two recessive variants would result in a partial loss of function. Because the clinical picture can be nonspecific, detailed phenotype information, segregation, and functional analysis are fundamental to determine the pathogenicity of novel variants and to improve the care of these patients.</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 and biallelic DEAF1 variants cause a phenotypic spectrum","attachmentId":82991789,"attachmentType":"pdf","work_url":"https://www.academia.edu/75076405/De_novo_and_biallelic_DEAF1_variants_cause_a_phenotypic_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/75076405/De_novo_and_biallelic_DEAF1_variants_cause_a_phenotypic_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="5" data-entity-id="38685952" 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/38685952/De_novo_and_biallelic_DEAF1_variants_cause_a_phenotypic_spectrum_Published_in_Genetics_in_Medicine_2019_21_9_2059_2069_Author_Roberto_Colombo_32_37_co_authors_Impact_Factor_9_94_Ranking_6_100_Clinical_Genetics">De novo and biallelic DEAF1 variants cause a phenotypic spectrum || Published in: Genetics in Medicine 2019, 21(9): 2059-2069 || Author: Roberto Colombo (32) + 37 co-authors || Impact Factor: 9.94 || Ranking: 6/100 Clinical Genetics</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="9849156" href="https://unicatt.academia.edu/robertocolombo">Roberto Colombo</a></div><p class="ds-related-work--abstract ds2-5-body-sm">PURPOSE: To investigate the effect of different DEAF1 variants on the phenotype of patients with autosomal dominant and recessive inheritance patterns and on DEAF1 activity in vitro. METHODS: We assembled a cohort of 23 patients with de novo and biallelic DEAF1 variants, described the genotype-phenotype correlation, and investigated the differential effect of de novo and recessive variants on transcription assays using DEAF1 and Eif4g3 promoter luciferase constructs. RESULTS: The proportion of the most prevalent phenotypic features, including intellectual disability, speech delay, motor delay, autism, sleep disturbances, and a high pain threshold, were not significantly different in patients with biallelic and pathogenic de novo DEAF1 variants. However, microcephaly was exclusively observed in patients with recessive variants (p < 0.0001). CONCLUSION: We propose that different variants in the DEAF1 gene result in a phenotypic spectrum centered around neurodevelopmental delay. While a pathogenic de novo dominant variant would also incapacitate the product of the wild-type allele and result in a dominant-negative effect, a combination of two recessive variants would result in a partial loss of function. Because the clinical picture can be nonspecific, detailed phenotype information, segregation, and functional analysis are fundamental to determine the pathogenicity of novel variants and to improve the care of these patients.</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 and biallelic DEAF1 variants cause a phenotypic spectrum || Published in: Genetics in Medicine 2019, 21(9): 2059-2069 || Author: Roberto Colombo (32) + 37 co-authors || Impact Factor: 9.94 || Ranking: 6/100 Clinical Genetics","attachmentId":58767861,"attachmentType":"pdf","work_url":"https://www.academia.edu/38685952/De_novo_and_biallelic_DEAF1_variants_cause_a_phenotypic_spectrum_Published_in_Genetics_in_Medicine_2019_21_9_2059_2069_Author_Roberto_Colombo_32_37_co_authors_Impact_Factor_9_94_Ranking_6_100_Clinical_Genetics","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/38685952/De_novo_and_biallelic_DEAF1_variants_cause_a_phenotypic_spectrum_Published_in_Genetics_in_Medicine_2019_21_9_2059_2069_Author_Roberto_Colombo_32_37_co_authors_Impact_Factor_9_94_Ranking_6_100_Clinical_Genetics"><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="31796426" 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/31796426/110th_ENMC_International_Workshop_The_congenital_cranial_dysinnervation_disorders_CCDDs_">110th ENMC International Workshop: The congenital cranial dysinnervation disorders (CCDDs)</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="50721074" href="https://johnshopkins.academia.edu/THOMASBOSLEY">THOMAS M BOSLEY</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Neuromuscular Disorders, 2003</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":"110th ENMC International Workshop: The congenital cranial dysinnervation disorders (CCDDs)","attachmentId":52096241,"attachmentType":"pdf","work_url":"https://www.academia.edu/31796426/110th_ENMC_International_Workshop_The_congenital_cranial_dysinnervation_disorders_CCDDs_","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/31796426/110th_ENMC_International_Workshop_The_congenital_cranial_dysinnervation_disorders_CCDDs_"><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="24209570" 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/24209570/Brainstem_dysgenesis_report_of_five_patients_with_congenital_hypotonia_multiple_cranial_nerve_involvement_and_ocular_motor_apraxia">Brainstem dysgenesis: report of five patients with congenital hypotonia, multiple cranial nerve involvement, and ocular motor apraxia</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="46659276" href="https://independent.academia.edu/AlfonsMacaya">Alfons Macaya</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Developmental Medicine & Child Neurology, 2003</p><p class="ds-related-work--abstract ds2-5-body-sm">This paper reports three females and two males with a distinctive congenital syndrome characterized by severe congenital hypotonia, facial diplegia, jaw ankylosis, velopharyngeal incoordination, pyramidal tract signs, and ocular motor apraxia. Patients were followed up at ages ranging from 20 months to 16 years. All cases of this syndrome are sporadic, without dysmorphological features, chromosomal, or MRI brain abnormalities. Electrophysiological studies indicate the brainstem as the site of the neurological dysfunction. Postmortem CNS study of one of the patients demonstrated neuronal depletion of the IV, VII, VIII, and IX cranial nerve nuclei and intact morphology of the cerebral hemispheres. A vascular accident, early in foetal life, is the most likely cause of the clinical picture. The extent of brainstem involvement and its related clinical findings distinguishes these patients from those with Moebius, Pierre Robin, or Cogan syndromes. Outcome is better than what could be anticipated during the first few months of life given the severity of symptoms. Intelligence or developmental quotients are within the normal range for their age. Facial hypomimia, feeding, and speech articulatory performance difficulties are the main disabilities observed in these patients at follow-up.</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":"Brainstem dysgenesis: report of five patients with congenital hypotonia, multiple cranial nerve involvement, and ocular motor apraxia","attachmentId":44540607,"attachmentType":"pdf","work_url":"https://www.academia.edu/24209570/Brainstem_dysgenesis_report_of_five_patients_with_congenital_hypotonia_multiple_cranial_nerve_involvement_and_ocular_motor_apraxia","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/24209570/Brainstem_dysgenesis_report_of_five_patients_with_congenital_hypotonia_multiple_cranial_nerve_involvement_and_ocular_motor_apraxia"><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="101381099" 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/101381099/De_novo_mutation_in_the_gene_encoding_connexin_26_GJB2_in_a_sporadic_case_of_keratitis_ichthyosis_deafness_KID_syndrome">De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome</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="257005317" href="https://independent.academia.edu/FelipeMoreno333">Felipe Moreno</a></div><p class="ds-related-work--metadata ds2-5-body-xs">American Journal of Medical Genetics, 2002</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 mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome","attachmentId":101938536,"attachmentType":"pdf","work_url":"https://www.academia.edu/101381099/De_novo_mutation_in_the_gene_encoding_connexin_26_GJB2_in_a_sporadic_case_of_keratitis_ichthyosis_deafness_KID_syndrome","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/101381099/De_novo_mutation_in_the_gene_encoding_connexin_26_GJB2_in_a_sporadic_case_of_keratitis_ichthyosis_deafness_KID_syndrome"><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="57549767" 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/57549767/Genetic_syndromes_involving_hearing">Genetic syndromes involving hearing</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="30153772" href="https://independent.academia.edu/AlbertoSensi">Alberto Sensi</a></div><p class="ds-related-work--metadata ds2-5-body-xs">International Journal of Pediatric Otorhinolaryngology, 2009</p><p class="ds-related-work--abstract ds2-5-body-sm">The fundamental processes involved in the mechanism of hearing seem to be controlled by hundreds of genes and hereditary hearing impairment may be caused by a large variety of genetic mutations in different genes. Approximately 150 loci for monogenic syndromic and non-syndromic hearing impairment (HI) disorders have been mapped to the human genome. The identification of these genes and functional analysis of the proteins they encode, are paving the way towards a better understanding of the physiology and pathophysiology of the auditory system. To date, approximately 50 causative genes have been identified. Methods: The clinical and neuroradioldical findings of syndromal hearing impairment are analysed. Results: This paper presents an updated report on genetic syndromes in which a hearing impairment is involved, with a particular attention to the ones associated with external ear and craniofacial malformations. Conclusions: Concepts in human genetics are rapidly evolving together with technologies. The concept itself of gene is changing. A genetic diagnosis of syndromal hearing impairment has many practical consequences: it can implies specific prognosis, specific management, specific recurrence risk in relatives and, if the diagnosis is confirmed at the molecular level, possibility of a specific early prenatal diagnosis for severe syndromes. It is important to highlight the necessity that the pediatric otolaryngologist must have a close collaboration with a clinical geneticist and a neuroradiologist.</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 syndromes involving hearing","attachmentId":72398357,"attachmentType":"pdf","work_url":"https://www.academia.edu/57549767/Genetic_syndromes_involving_hearing","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/57549767/Genetic_syndromes_involving_hearing"><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":89678060,"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":89678060,"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_89678060" 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. 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