A follow-up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene.

ABSTRACT:

Background

Waardenburg syndrome (WS) is a highly clinically and genetically heterogeneous disease. The core disease phenotypes of WS are sensorineuronal hearing loss and pigmentary disturbance, which are usually caused by the absence of neural crest cell-derived melanocytes. At present, four subtypes of WS have been defined, which are caused by seven genes. Waardenburg syndrome type 2 (WS2) is one of the most common forms. Two genes, MITF and SOX10, have been found to be responsible for majority of WS2.

Methods

In this study, we performed a clinical longitudinal follow-up and mutation screening for a Chinese family with Waardenburg syndrome type II.

Results

A diversity of clinical manifestations was observed in this WS2 family. In addition to the congenital hearing lo

SUBMITTER: Yang S 

PROVIDER: S-EPMC7767564 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature