Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing
Journal
Molecular Genetics & Genomic Medicine
Journal Volume
10
Journal Issue
12
Date Issued
2022-12
Author(s)
Lee, Chen-Yu
Lo, Ming-Yu
Chen, You-Mei
Hsu, Chuan-Jen
Abstract
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.
Subjects
EDNRB; MITF; PAX3; SOX10; Waardenburg syndrome; next-generation sequencing
Publisher
WILEY
Type
journal article