A novel deletion upstream of <i>POU3F4</i> in a Chinese family with X-linked deafness 2 and a literature review.

ABSTRACT:

Background

X-linked deafness 2 (DFNX2) is a rare hereditary hearing loss characterized by progressive conductive and sensorineural hearing loss and a pathognomonic temporal bone deformity. DFNX2 is caused by mutations in the coding sequence or deletions upstream of POU3F4. Only 12 upstream deletions of POU3F4 associated with DFNX2 have been reported, and the precise mechanisms underlying its pathogenesis remain fully elucidated.

Methods

Whole-genome Sequencing (WGS) and linkage analysis were performed to identify potential genetic etiologies. Gap-PCR and Sanger sequencing were used to validate candidate pathogenic variants and elucidate the breakpoints. Quantitative Polymerase Chain Reaction (qPCR) was conducted to evaluate the altered expression of both POU3F4

SUBMITTER: Yang Y 

PROVIDER: S-EPMC12571451 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature