机构：[1]Department of Otolaryngology, Head and Neck Surgery, Kunming Children's Hospital, Kunming, Yunnan 650228[2]Yunnan Pediatric Institute, Kunming Children's Hospital, Kunming, Yunnan 650228[3]Institute of Medical Biology, Chinese Academy of Medical Sciences and Peking Union of Medical College, Kunming, Yunnan 650118[4]Yunnan Rehabilitation School For Children With Hearing Impairment, Kunming, Yunnan 650100[5]Department of Otolaryngology, First Hospital of Kunming Medical University, Kunming, Yunnan 650032, P.R. China昆明医科大学附属第一医院
Waardenburg syndrome type 2 (WS2) is a rare genetic disorder, characterized by bright blue eyes, moderate to profound hearing loss and pigmental abnormalities of the hair and skin. Between 10 and 20 mutations in the SRY-box 10 (SOX10) gene were previously identified to be associated with WS2. The present study aimed to identify the genetic causes of WS2 in a Chinese family. Clinical and molecular analyses were performed to genetically characterize a Chinese family with two cases of WS2. The clinical data of the proband were collected using a questionnaire. The genomic DNA was extracted from peripheral blood samples of each individual in the family, and 168 candidate genes associated with hearing loss were sequenced using the Illumina HiSeq 2000 and confirmed by Sanger sequencing. A heterozygous nonsense mutation [substitution; position 127; cytosine to thymine (c.127C>T)] was identified in exon 2 of SOX10 (transcript ID: NM_006941.3) in the proband and the mother; however, not in other family members or healthy controls. The novel nonsense heterozygous mutation may cause the replacement of codon 43 [arginine (Arg)] with a stop codon (Arg43stop), leading to premature termination of protein translation. The novel nonsense heterozygous mutation c.127C>T in the SOX10 gene was considered to be the cause of WS2 in the family. This mutation has not been identified in any databases, to the best of the authors' knowledge, including The Single Nucleotide Polymorphism Database, The Human Gene Mutation Database, 1000 Genomes Project and ClinVar and Exome Sequencing Project v. 6500.
基金：
National Natural Science Fund of China (China)National Natural Science Foundation of China [81660175]; Basic Applied Study Planning Projects of Yunnan Province [2015FB090]; High-level Health and Family Planning Technical Personnel Training Projects of Yunnan Province [D201637]; Yunnan Children's Hearing Impairment and Speech Disease Comprehensive Prevention Innovation Team
第一作者机构：[1]Department of Otolaryngology, Head and Neck Surgery, Kunming Children's Hospital, Kunming, Yunnan 650228
共同第一作者：
通讯作者：
通讯机构：[1]Department of Otolaryngology, Head and Neck Surgery, Kunming Children's Hospital, Kunming, Yunnan 650228[5]Department of Otolaryngology, First Hospital of Kunming Medical University, Kunming, Yunnan 650032, P.R. China[*1]Department of Otolaryngology, Head and Neck Surgery, Kunming Children's Hospital, 288 Qianxing Road, Xishan, Kunming, Yunnan 650228, P.R. China[*2]Department of Otolaryngology, First Hospital of Kunming Medical University, 295 Xichang Road, Wuhua, Kunming, Yunnan 650032, P.R. China
推荐引用方式(GB/T 7714)：
JING MA,ZHEN ZHANG,HONG-CHAO JIANG,et al.A novel dominant mutation in the SOX10 gene in a Chinese family with Waardenburg syndrome type II[J].MOLECULAR MEDICINE REPORTS.2019,19(3):1775-1780.doi:10.3892/mmr.2019.9815.
APA：
JING MA,ZHEN ZHANG,HONG-CHAO JIANG,HAO SUN,CHENG MING...&BIAO RUAN.(2019).A novel dominant mutation in the SOX10 gene in a Chinese family with Waardenburg syndrome type II.MOLECULAR MEDICINE REPORTS,19,(3)
MLA：
JING MA,et al."A novel dominant mutation in the SOX10 gene in a Chinese family with Waardenburg syndrome type II".MOLECULAR MEDICINE REPORTS 19..3(2019):1775-1780
