Waardenburg syndrome is an autosomal dominant inherited syndromic hereditary hearing loss characterized by varying combinations of sensorineural hearing loss and abnormal pigmentation of the hair, skin, and inner ear. The aim of this study was to analyze the clinical phenotypes and genetic variants of a Chinese boy with Waardenburg syndrome type 2 and to explore the possible molecular pathogenesis of Waardenburg syndrome type 2. Clinical, audiological, and ophthalmologic evaluations were performed on the proband. Clinical data from the principal members in the proband's family were collected through questionnaires. Genetic analysis was conducted, including targeted next-generation sequencing of 144 known deafness genes, Sanger sequencing, and bioinformatic analysis. Waardenburg syndrome type 2was diagnosed in a 4-year-old boy according to the Waardenburg Syndrome Consortium Criteria. The novel missense mutation c.426G>T (p.Trp142Cys) was identified in SOX10 in the proband but was absent in his parents and the controls. A de novo missense mutation in SOX10 was the genetic cause of Waardenburg syndrome type 2 in the proband, which was useful for the molecular diagnosis of Waardenburg syndrome type 2.
基金：
This work was supported by the Scientific Research Fund Project of
Education Department of Yunnan Province (2020J0156) to Min Guo; the
Research Program of Internal Institutions in Health and Family Planning Commission of Yunnan Province (2017NS074 and 2017NS073) to Shuling Li and
Min Guo; the grants from the National Natural Science Foundation of China
(81660175) to Biao Ruan.
第一作者机构：[1]Kunming Medical University First Affiliated Hospital, Kunming, Yunnan, China.
通讯作者：
推荐引用方式(GB/T 7714)：
Guo Min,Li Qing,Jiang Chaowu,et al.A De Novo Mutation in SOX10 in a Chinese Boy with Waardenburg Syndrome Type 2[J].JOURNAL OF INTERNATIONAL ADVANCED OTOLOGY.2023,19(3):255-259.doi:10.5152/iao.2023.22745.
APA：
Guo Min,Li Qing,Jiang Chaowu,Li Shuling&Ruan Biao.(2023).A De Novo Mutation in SOX10 in a Chinese Boy with Waardenburg Syndrome Type 2.JOURNAL OF INTERNATIONAL ADVANCED OTOLOGY,19,(3)
MLA：
Guo Min,et al."A De Novo Mutation in SOX10 in a Chinese Boy with Waardenburg Syndrome Type 2".JOURNAL OF INTERNATIONAL ADVANCED OTOLOGY 19..3(2023):255-259
