Objectives: Waardenburg syndrome is a rare genetic disorder, characterized by the association of sensorineural hearing loss and pigmentation abnormalities. Four subtypes have been classified. The present study aimed to analyze the clinical feature and investigate the genetic cause for a Chinese case of Waardenburg type IV (WS4). Methods: The patient and his family members were subjected to mutation detection in the candidate gene SOX10 by Sanger sequencing. Results: The patient has the clinical features of WS4, including sensorineural hearing loss, bright blue irides, premature graying of the hair and Hirschsprung disease. A novel heterozygous frameshift mutation, c.752_753ins7 (p.GIy252Alafs*31) in the exon 5 of SOXIO was detected in the patient, but not found in the unaffected family members and 100 normal controls. This mutation results in a premature stop codon 31 amino acid downstream. Conclusions: The novel mutation c.752_753ins7 (p.Gly252Alafs*31) arose de novo and was considered as the cause of WS4 in the proband. This study further characterized the molecular complexity of WS4 and provided a clinical case for genotype-phenotype correlation studies of different phenotypes caused by SOXIO mutations. (C) 2016 Elsevier Ireland Ltd. All rights reserved.
第一作者机构：[1]Capital Med Univ, Beijing Tongren Hosp, Dept Otolaryngol Head & Neck Surg, Beijing 100730, Peoples R China
共同第一作者：
通讯作者：
通讯机构：[2]China Rehabil & Res Ctr Deaf Children, A8 Huixinli, Beijing 100029, Peoples R China[*1]China Rehabilitation and Research Center for Deaf Children, A8 Huixinli, Chaoyang District, Beijing 100029, China.
推荐引用方式(GB/T 7714)：
Liang Fenghe,Zhao Min,Fan Lynn,et al.Identification of a de novo mutation of SOX10 in a Chinese patient with Waardenburg syndrome type IV[J].INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY.2016,91:67-71.doi:10.1016/j.ijporl.2016.10.019.
APA：
Liang, Fenghe,Zhao, Min,Fan, Lynn,Zhang, Hongyan,Shi, Yang...&Qu, Chunyan.(2016).Identification of a de novo mutation of SOX10 in a Chinese patient with Waardenburg syndrome type IV.INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY,91,
MLA：
Liang, Fenghe,et al."Identification of a de novo mutation of SOX10 in a Chinese patient with Waardenburg syndrome type IV".INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY 91.(2016):67-71
