Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families.

ABSTRACT:

Background

Many X-linked non-syndromic hearing loss (HL) cases are caused by various mutations in the POU domain class 3 transcription factor 4 (POU3F4) gene. This study aimed to identify allelic variants of this gene in two Chinese families displaying X-linked inheritance deafness-2 (DFNX2) and one sporadic case with indefinite inheritance pattern.

Methods

Direct DNA sequencing of the POU3F4 gene was performed in these families and in 100 Chinese individuals with normal hearing.

Results

There are characteristic imaging findings in DFNX2 Chinese families with POU3F4 mutations. The temporal bone computed tomography (CT) images of patients with DFNX2 are characterized by a thickened stapes footplate, hypoplasia of the cochlear base, absence of the bony modiolus, and dil

SUBMITTER: Su Y 

PROVIDER: S-EPMC6122742 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature