POU3F4 Gene and X-linked Inheritance Deafness-2
LIU Shuo
QI Xin
HUANG Shasha
DAI Pu
SU Yu
Abstract：POU3F4 is the main causative gene for the most common type of X-linked inheritance deafness-2(DFNX2).DFNX2 is recessively inherited,and CT scan typically shows incomplete partition typeⅢ(IP-Ⅲ),characterized by missing bony separation between the cochlear basal turn and the internal auditory canal(IAC),absence of modiolus,dilatation of the IAC,and wide communication between the IAC and cochlea.In this paper,we systematically review the molecular mechanisms,clinical phenotypes,and advances in treatment of IP-Ⅲ inner ear malformations associated with POU3F4 gene variants,aiming to increase the understanding of mechanisms in DFNX2 caused by POU3F4 gene abnormalities,and to lay the foundation for future research.
Keywords：POU3F4incomplete partition typeⅢ(IP-Ⅲ)molecular mechanismgenotype-phenotype correlationcochlear implantation
Publication Date：2025-06-15
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：6( 499-504 )