Identification of six novel variants in Waardenburg syndrome type II by next-generation sequencing.

ABSTRACT:

Background

Waardenburg syndrome (WS) is a dominantly inherited, genetically heterogeneous auditory-pigmentary syndrome characterized by nonprogressive sensorineural hearing loss and iris discoloration. This study aimed to investigate the underlying molecular pathology in Chinese WS families.

Methods

A total of 13 patients with Waardenburg syndrome type II (WS2) from six unrelated Chinese families were enrolled. We investigated the mutation profile of genes related to congenital deafness in these families through a targeted sequencing technology and validated the candidate variants by Sanger sequencing.

Results

We identified six novel variants in microphthalmia-associated transcription factor (MITF) and SRY-box 10 (SOX10), which were predicted to be disease causing by

SUBMITTER: Ren S 

PROVIDER: S-EPMC7057110 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature