Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.

ABSTRACT:

Background

Waardenburg syndrome (WS) is a hereditary, genetically heterogeneous disorder characterized by variable presentations of sensorineural hearing impairment and pigmentation anomalies. This study aimed to investigate the clinical features of WS in detail and determine the genetic causes of patients with clinically suspected WS.

Methods

A total of 24 patients from 21 Han-Taiwanese families were enrolled and underwent comprehensive physical and audiological examinations. We applied targeted next-generation sequencing (NGS) to investigate the potential causative variants in these patients and further validated the candidate variants through Sanger sequencing.

Results

We identified 19 causative variants of WS in our cohort. Of these variants, nine were novel and d

SUBMITTER: Lee CY 

PROVIDER: S-EPMC9747560 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature