Clinical and genetic characteristics of Chinese patients with Waardenburg syndrome.
10.3760/cma.j.cn511374-20190610-00288
- Author:
Na ZHAO
1
;
Jing WANG
;
Han XIAO
;
Changxin WU
Author Information
1. Institute of Biotechnology, Shanxi University, Taiyuan, Shanxi 030000, China. cxw20@sxu.edu.cn.
- Publication Type:Journal Article
- From:
Chinese Journal of Medical Genetics
2020;37(10):1186-1190
- CountryChina
- Language:Chinese
-
Abstract:
Waardenburg syndrome (WS), also known as auditorypigmentary syndrome, is characterized by non-progressive sensorineural hearing loss and anomalous pigmentation. Its mode of inheritance is either autosomal dominant or autosomal recessive. So far only PAX3, MITF, SOX10 and EDNRB mutations have been identified among Chinese patients with WS. This review has provided an update for WS-related genes, mutation databases, molecular and functional data, and a discussion over the molecular diagnosis of WS.
