{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T08:11:51Z","timestamp":1791187911455,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2014,5,20]],"date-time":"2014-05-20T00:00:00Z","timestamp":1400544000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Institut de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM)"},{"name":"Assistance Publique des H\u00f4pitaux de Paris (AP-HP)"},{"name":"Agence Nationale de la Recherche (ANR-JCJC-2010)"},{"DOI":"10.13039\/501100002915","name":"Fondation pour la Recherche M\u00e9dicale (FRM)","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,9]]},"abstract":"<jats:sec><jats:label\/><jats:p>Waardenburg syndrome (WS) is characterized by an association of pigmentation abnormalities and sensorineural hearing loss. Four types, defined on clinical grounds, have been delineated, but this phenotypic classification correlates imperfectly with known molecular anomalies. <jats:italic>SOX10<\/jats:italic> mutations have been found in patients with type II and type IV WS (i.e., with Hirschsprung disease), more complex syndromes, and partial forms of the disease. The phenotype induced by <jats:italic>SOX10<\/jats:italic> mutations is highly variable and, except for the neurological forms of the disease, no genotype\u2013phenotype correlation has been characterized to date. There is no mutation hotspot in <jats:italic>SOX10<\/jats:italic> and most cases are sporadic, making it particularly difficult to correlate the phenotypic and genetic variability. This study reports on three independent families with <jats:italic>SOX10<\/jats:italic> mutations predicted to result in the same missense mutation at the protein level (p.Met112Ile), offering a rare opportunity to improve our understanding of the mechanisms underlying phenotypic variability. The pigmentation defects of these patients are very similar, and the neurological symptoms showed a somewhat similar evolution over time, indicating a potential partial genotype\u2013phenotype correlation. However, variability in gastrointestinal symptoms suggests that other genetic factors contribute to the expression of these phenotypes. No correlation between the rs2435357 polymorphism of <jats:italic>RET<\/jats:italic> and the expression of Hirschsprung disease was found. In addition, one of the patients has esophageal achalasia, which has rarely been described in WS. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36612","type":"journal-article","created":{"date-parts":[[2014,5,20]],"date-time":"2014-05-20T20:40:06Z","timestamp":1400618406000},"page":"2344-2350","source":"Crossref","is-referenced-by-count":23,"title":["Phenotypic similarities and differences in patients with a p.Met112Ile mutation in <i>SOX10<\/i>"],"prefix":"10.1002","volume":"164","author":[{"given":"Veronique","family":"Pingault","sequence":"first","affiliation":[{"name":"H\u00f4pital Henri Mondor, AP\u2010HP Laboratoire de Biochimie et G\u00e9n\u00e9tique Cr\u00e9teil France"},{"name":"INSERM U955 Equipe 11 Cr\u00e9teil France"},{"name":"Universit\u00e9 Paris Est UMR_S955 UPEC Cr\u00e9teil 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