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It is responsible for 2\u20135% of congenital deafness. WS is classified into four types depending on the clinical phenotypes. Currently, pathogenic mutation of <jats:italic>PAX3<\/jats:italic>, <jats:italic>MITF<\/jats:italic>, <jats:italic>EDNRB<\/jats:italic>, <jats:italic>EDN3<\/jats:italic>, <jats:italic>SNAI2<\/jats:italic>, or <jats:italic>SOX10<\/jats:italic> can cause corresponding types of WS. Among them, <jats:italic>SOX10<\/jats:italic> mutation is responsible for approximately 15% of type II WS or 50% of type IV WS. We report the case of a proband in a Chinese family who was diagnosed with WS type II. Whole exome sequencing (WES) of the proband detected a novel heterozygous spontaneous mutation: <jats:italic>SOX10<\/jats:italic> c.246delC. According to analysis based on nucleic acid and amino acid sequences, this mutation may produce a truncated protein, with loss of the HMG structure domain. Therefore, this truncated protein may fail to activate the expression of the <jats:italic>MITF<\/jats:italic> gene, which regulates melanocytic development and plays a key role in WS. Our finding expands the database of <jats:italic>SOX10<\/jats:italic> mutations associated with WS and provides more information regarding the molecular mechanism of WS.<\/jats:p>","DOI":"10.1155\/2020\/9260807","type":"journal-article","created":{"date-parts":[[2020,8,29]],"date-time":"2020-08-29T01:24:17Z","timestamp":1598664257000},"page":"1-8","source":"Crossref","is-referenced-by-count":7,"title":["A Novel Spontaneous Mutation of the <i>SOX10<\/i> Gene Associated with Waardenburg Syndrome Type II"],"prefix":"10.1155","volume":"2020","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9579-8080","authenticated-orcid":true,"given":"Sen","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, 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