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Waardenburg syndrome (WS) is one of the most common forms of syndromic deafness with heterogeneity of loci and alleles and variable expressivity of clinical features.<jats:italic>Methods<\/jats:italic>. The technology of single-nucleotide variants (SNV) and copy number variation (CNV) detection was developed to investigate the genotype spectrum of WS in a Chinese population.<jats:italic>Results<\/jats:italic>. Ninety WS patients and 24 additional family members were recruited for the study. Fourteen mutations had not been previously reported, including c.808C&gt;G, c.117C&gt;A, c.152T&gt;G, c.803G&gt;T, c.793-3T &gt;G, and c.801delT on<jats:italic>PAX3<\/jats:italic>; c.642_650delAAG on<jats:italic>MITF<\/jats:italic>; c.122G&gt;T and c.127C&gt;T on<jats:italic>SOX10<\/jats:italic>; c.230C&gt;G and c.365C&gt;T on<jats:italic>SNAI2<\/jats:italic>; and c.481A&gt;G, c.1018C&gt;G, and c.1015C&gt;T on<jats:italic>EDNRB<\/jats:italic>. Three CNVs were de novo and first reported in our study. Five<jats:italic>EDNRB<\/jats:italic>variants were associated with WS type 1 in the heterozygous state for the first time, with a detection rate of 22.2%. Freckles occur only in WS type 2. Yellow hair, amblyopia, congenital ptosis, narrow palpebral fissures, and pigmentation spots are rare and unique symptoms in WS patients from China.<jats:italic>Conclusions<\/jats:italic>.<jats:italic>EDNRB<\/jats:italic>should be considered as another prevalent pathogenic gene in WS type 1. Our study expanded the genotype and phenotype spectrum of WS, and diagnostic next-generation sequencing is promising for WS.<\/jats:p>","DOI":"10.1155\/2019\/7143458","type":"journal-article","created":{"date-parts":[[2019,2,28]],"date-time":"2019-02-28T00:12:17Z","timestamp":1551312737000},"page":"1-12","source":"Crossref","is-referenced-by-count":23,"title":["New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing"],"prefix":"10.1155","volume":"2019","author":[{"given":"Wu","family":"Li","sequence":"first","affiliation":[{"name":"Department of Otolaryngology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, Hunan, China"},{"name":"Province Key Laboratory of Otolaryngology Critical Diseases, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lingyun","family":"Mei","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, Hunan, China"},{"name":"Province Key Laboratory of Otolaryngology Critical Diseases, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongsheng","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, Hunan, China"},{"name":"Province Key Laboratory of Otolaryngology Critical Diseases, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinzhang","family":"Cai","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, Hunan, China"},{"name":"Province Key Laboratory of Otolaryngology Critical Diseases, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yalan","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, Hunan, China"},{"name":"Province Key Laboratory of Otolaryngology Critical Diseases, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2558-739X","authenticated-orcid":true,"given":"Meichao","family":"Men","sequence":"additional","affiliation":[{"name":"Health Management Center, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1779-8218","authenticated-orcid":true,"given":"Xue Zhong","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, Hunan, China"},{"name":"Department of Otolaryngology, University of Miami, Miller School of Medicine, Miami, USA"},{"name":"Dr. John T. 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