一个新发现的 SOX10 基因突变与一个广西的 Waardenburg 综合征 II 型家系的内耳畸形有关。
A de novo mutation of the SOX10 gene associated with inner ear malformation in a Guangxi family with Waardenburg syndrome type II.
机构信息
Department of Otolaryngology-Head and Neck Surgery, The First Affiliated Hospital of Guangxi Medical University, Nanning, 530021, China.
Department of Otolaryngology-Head and Neck Surgery, The First Affiliated Hospital of Guangxi Medical University, Nanning, 530021, China.
出版信息
Int J Pediatr Otorhinolaryngol. 2021 Jun;145:110711. doi: 10.1016/j.ijporl.2021.110711. Epub 2021 Apr 14.
OBJECTIVE
Waardenburg syndrome type 2 (WS2) is a rare neural-crest disorder, characterized by heterochromic irides or blue eyes and sensorineural hearing loss. The aim of this study was to analyze the clinical features and investigate the genetic cause of WS2 in a small family from Guangxi Zhuang Autonomous region.
METHODS
Whole-exome sequencing and mutational analysis were used to identify disease-causing genes in this family.
RESULTS
A de novo missense mutation, C.355C > T (p. Arg119Cys), in exon 2 of SOX10 was related to inner ear malformation in the proband and identified by whole exon sequencing, but this mutation was absent in normal controls and any public databases. According to nucleic acid sequence and protein bioinformatic analysis, this mutation is considered the cause of WS2 without neurologic involvement in the proband.
CONCLUSIONS
Our findings provide an accurate genetic diagnosis, counseling, and rehabilitation for family members and may contribute to further genotype-phenotype correlation studies of the SOX10 gene.
目的
瓦登伯格综合征 2 型（WS2）是一种罕见的神经嵴疾病，其特征为虹膜异色或蓝眼睛以及感音神经性听力损失。本研究旨在分析一个来自广西壮族自治区的小家族中 WS2 的临床特征，并探讨其遗传病因。
方法
对该家族进行全外显子组测序和突变分析，以鉴定致病基因。
结果
通过全外显子测序，发现先证者中 SOX10 外显子 2 的 C.355C>T（p.Arg119Cys）错义突变与内耳畸形有关，但该突变在正常对照和任何公共数据库中均不存在。根据核酸序列和蛋白质生物信息学分析，该突变被认为是先证者无神经受累的 WS2 的病因。
结论
本研究结果为家庭成员提供了准确的遗传诊断、咨询和康复建议，并可能有助于进一步开展 SOX10 基因突变与表型相关性研究。
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