Identification of a novel mutation of SOX10 gene and analysis of the phenotype
10.3760/cma.j.cn115330-20200122-00044
- VernacularTitle:SOX10基因新突变的鉴定及其临床表型特征分析
- Author:
Qiujing ZHANG
1
;
Lan LAN
;
Linyi XIE
;
Cui ZHAO
;
Jing GUAN
;
Qiuju WANG
Author Information
1. 解放军总医院解放军医学院耳鼻咽喉头颈外科 解放军耳鼻咽喉研究所 国家耳鼻咽喉疾病临床医学研究中心 聋病教育部重点实验室 聋病防治北京市重点实验室 100853
- Keywords:
SOX10;
Hearing loss, sensorineural;
Albinism;
Nystagmus;
PCWH
- From:
Chinese Journal of Otorhinolaryngology Head and Neck Surgery
2020;55(11):1050-1056
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical features and pathogenic mechanisms of a special syndrome with congenital sensorineural hearing loss, albinism, heterochromia iridis, nystagmus and myelin dysplasia.Methods:Detailed medical history, systematic audiology tests, ophthalmic and neurological examinations were carried out to analyze the clinical features of the child, and further molecular genetic tests including chromosome karyotype analysis, and deafness gene screening were conducted.Results:A new de novo heterozygous mutation (c.336G>T/p.Met112Ile) was detected in the child, while both his parents were demonstrated to be wild-type and symptom free. The analysis of clinical features indicated the diagnosis of PCW syndrome. Conclusion:This study identified a new mutation of SOX10 gene, which enriched the mutation spectrum of this gene. And the analysis of clinical characteristics of this patient also expanded the phenotype of this gene. This study provided a reference for clinical diagnosis and genetic diagnosis of PCW syndrome.
