Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II.

ABSTRACT:

Background

Waardenburg syndrome (WS) is a rare autosomal-dominant syndrome and is characterized by sensorineural hearing loss and pigment abnormalities. It is subdivided into four types according to the clinical characteristics. MITF is one of the major pathogenic genes for type II. The aim of this study was to investigate MITF mutations and the clinical characteristics of WS type 2 (WS2) in four Chinese families.

Method

Clinical diagnoses were based on detailed clinical findings. Six WS2 patients from four unrelated Chinese families were enrolled. Massively parallel DNA sequencing was used to find pathogenic genes and Sanger sequencing was used to confirm the variants detected.

Results

Sensorineural hearing loss was observed in four of six patients, three had heteroc

SUBMITTER: Wang J 

PROVIDER: S-EPMC8457691 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature