{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T23:23:19Z","timestamp":1778714599445,"version":"3.51.4"},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,3,9]],"date-time":"2020-03-09T00:00:00Z","timestamp":1583712000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Common Fund of the NIH Office of the Director of the National Institutes of Health"},{"name":"Intramural Research Program of the National Human Genome Research Institute"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Waardenburg syndrome (WS) is a group of genetic disorders associated with varying components of sensorineural hearing loss and abnormal pigmentation of the hair, skin, and eyes. There exist four different WS subtypes, each defined by the absence or presence of additional features. One of the genes associated with WS is <jats:italic>SOX10<\/jats:italic>, a key transcription factor for the development of neural crest\u2010derived lineages. Here we report a 12\u2010year\u2010old boy with a novel de novo <jats:italic>SOX10<\/jats:italic> frameshift mutation and unique combination of clinical features including primary peripheral demyelinating neuropathy, hearing loss and visual impairment but absence of Hirschsprung disease and the typical pigmentary changes of hair or skin. This expands the spectrum of currently recognized phenotypes associated with WS and illustrates the phenotypic heterogeneity of <jats:italic>SOX10<\/jats:italic>\u2010associated WS.<\/jats:p>","DOI":"10.1002\/ajmg.a.61542","type":"journal-article","created":{"date-parts":[[2020,3,9]],"date-time":"2020-03-09T13:29:17Z","timestamp":1583760557000},"page":"1278-1283","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["A novel frameshift mutation in <i>SOX10<\/i> causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0801-666X","authenticated-orcid":false,"given":"Elizabeth A.","family":"Burke","sequence":"first","affiliation":[{"name":"NIH Undiagnosed Diseases Program, Common Fund, Office of the Director National Human Genome Research Institute, NIH  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyle E.","family":"Reichard","sequence":"additional","affiliation":[{"name":"NIH Undiagnosed Diseases Program, Common Fund, Office of the Director National Human Genome Research Institute, NIH  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lynne A.","family":"Wolfe","sequence":"additional","affiliation":[{"name":"NIH Undiagnosed Diseases Program, Common Fund, Office of the Director National Human Genome Research Institute, NIH  Bethesda Maryland USA"},{"name":"Office of the Clinical Director National Human Genome Research Institute, NIH  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brian P.","family":"Brooks","sequence":"additional","affiliation":[{"name":"Ophthalmic Genetics and Visual Function Branch National Eye Institute, NIH  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John J.","family":"DiGiovanna","sequence":"additional","affiliation":[{"name":"Laboratory of Cancer Biology and Genetics, Center for Cancer Research National Cancer Institute, NIH  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donald W.","family":"Hadley","sequence":"additional","affiliation":[{"name":"Office of the Clinical Director National Human Genome Research Institute, NIH  Bethesda Maryland USA"},{"name":"Human Development Section, Medical Genetics Branch National Human Genome Research Institute, NIH  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tanya J.","family":"Lehky","sequence":"additional","affiliation":[{"name":"Electromyography Section National Institute of Neurological Disorders and Stroke, NIH  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea L.","family":"Gropman","sequence":"additional","affiliation":[{"name":"Human Development Section, Medical Genetics Branch National Human Genome Research Institute, NIH  Bethesda Maryland USA"},{"name":"Department of Neurology Children's National Medical Center  Washington District of Columbia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cynthia J.","family":"Tifft","sequence":"additional","affiliation":[{"name":"NIH Undiagnosed Diseases Program, Common Fund, Office of the Director National Human Genome Research Institute, NIH  Bethesda Maryland USA"},{"name":"Office of the Clinical Director National Human Genome Research Institute, NIH  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William A.","family":"Gahl","sequence":"additional","affiliation":[{"name":"NIH Undiagnosed Diseases Program, Common Fund, Office of the Director National Human Genome Research Institute, NIH  Bethesda Maryland USA"},{"name":"Office of the Clinical Director National Human Genome Research Institute, NIH  Bethesda Maryland USA"},{"name":"Section on Human Biochemical Genetics, Medical Genetics Branch National Human Genome Research Institute, NIH  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Camilo","family":"Toro","sequence":"additional","affiliation":[{"name":"NIH Undiagnosed Diseases Program, Common Fund, Office of the Director National Human Genome Research Institute, NIH  Bethesda Maryland USA"},{"name":"Office of the Clinical Director National Human Genome Research Institute, NIH  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Adams","sequence":"additional","affiliation":[{"name":"NIH Undiagnosed Diseases Program, Common Fund, Office of the Director National Human Genome Research Institute, NIH  Bethesda Maryland USA"},{"name":"Office of the Clinical Director National Human Genome Research Institute, NIH  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,3,9]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32657"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000151"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.0b013e318232a005"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2016.01.007"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2011.613"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1322"},{"key":"e_1_2_9_8_1","first-page":"531210","article-title":"Variation across 141,456 human exomes and genomes reveals the spectrum of loss\u2010of\u2010function intolerance across human protein\u2010coding genes","author":"Karczewski K. J.","year":"2019","journal-title":"bioRxiv"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307389300800408"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0298-171"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21211"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.8.656"},{"issue":"3","key":"e_1_2_9_14_1","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1101\/gr.9.3.215","article-title":"The Sox10(Dom) mouse: Modeling the genetic variation of Waardenburg\u2010Shah (WS4) syndrome","volume":"9","author":"Southard\u2010Smith E. M.","year":"1999","journal-title":"Genome Research"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32247"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddy029"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.61542","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61542","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61542","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61542","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T20:45:55Z","timestamp":1694033155000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61542"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3,9]]},"references-count":15,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2020,5]]}},"alternative-id":["10.1002\/ajmg.a.61542"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61542","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,3,9]]},"assertion":[{"value":"2019-11-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-02-14","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-03-09","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}