A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome.

ABSTRACT:

Background

Waardenburg syndrome (WS) is the most common form of syndromic deafness with phenotypic and genetic heterogeneity in the Chinese population. This study aimed to clarify the clinical characteristics and the genetic cause in eight Chinese WS families (including three familial and five sporadic cases). Further genotype-phenotype relationships were also investigated.

Methods

All probands underwent screening for the known WS-related genes including PAX3, SOX10, MITF, EDNRB, EDN3, and SNAI2 using next-generation sequencing to identify disease-causing genes. Further validation using Sanger sequencing was performed. Relevant findings for the associated genotype-phenotype from previous literature were retrospectively analyzed.

Result

Disease-causing variants were de

SUBMITTER: Li S 

PROVIDER: S-EPMC9632049 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature