{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:35Z","timestamp":1753869695170,"version":"3.41.2"},"reference-count":25,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2020,10,12]],"date-time":"2020-10-12T00:00:00Z","timestamp":1602460800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Waardenburg syndrome (WS) is a highly clinically and genetically heterogeneous disease. The core disease phenotypes of WS are sensorineuronal hearing loss and pigmentary disturbance, which are usually caused by the absence of neural crest cell\u2010derived melanocytes. At present, four subtypes of WS have been defined, which are caused by seven genes. Waardenburg syndrome type 2 (WS2) is one of the most common forms. Two genes, <jats:italic>MITF<\/jats:italic> and <jats:italic>SOX10<\/jats:italic>, have been found to be responsible for majority of WS2.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this study, we performed a clinical longitudinal follow\u2010up and mutation screening for a Chinese family with Waardenburg syndrome type II.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A diversity of clinical manifestations was observed in this WS2 family. In addition to the congenital hearing loss of most affected family members, progressive hearing loss was also found in some WS2 patients. A nonsense mutation of c.328C&gt;T (p.R110X) in <jats:italic>MITF<\/jats:italic> was identified in all affected family members. This mutation results in a truncated MITF protein, which is considered to be a disease\u2010causing mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>These findings offer a better understanding of the spectrum of <jats:italic>MITF<\/jats:italic> mutations and highlight the necessity of continuous hearing assessment in WS patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1520","type":"journal-article","created":{"date-parts":[[2020,10,12]],"date-time":"2020-10-12T20:49:27Z","timestamp":1602535767000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A follow\u2010up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of <i>MITF<\/i> gene"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0663-9211","authenticated-orcid":false,"given":"Shuzhi","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Otolaryngology, The 4th Medical Center Chinese PLA General Hospital Beijing China"},{"name":"Department of Otorhinolaryngology Head and Neck Surgery Chinese PLA General Hospital Beijing China"},{"name":"National Clinical Research Center for Otorhinolaryngologic Disease Chinese PLA General Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cuicui","family":"Wang","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Southwest Hospital Army Medical University Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chengyong","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, The 4th Medical Center Chinese PLA General Hospital Beijing China"},{"name":"Department of Otorhinolaryngology Head and Neck Surgery Chinese PLA General Hospital Beijing China"},{"name":"National Clinical Research Center for Otorhinolaryngologic Disease Chinese PLA General Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"DongYang","family":"Kang","sequence":"additional","affiliation":[{"name":"Institute Of Otolaryngology Chinese PLA General Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin","family":"Zhang","sequence":"additional","affiliation":[{"name":"Institute Of Otolaryngology Chinese PLA General Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huijun","family":"Yuan","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Southwest Hospital Army Medical University Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,10,12]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/522090"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2010.05.066"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.3724\/sp.j.1005.2008.00433"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12915\u2010016\u20100273\u20102"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.3892\/mmr.2016.4774"},{"issue":"5","key":"e_1_2_9_7_1","first-page":"902","article-title":"Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS consortium","volume":"50","author":"Farrer L. 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