Clinical and Molecular Aspects Associated with Defects in the Transcription Factor POU3F4: A Review.

ABSTRACT: X-linked deafness (DFNX) is estimated to account for up to 2% of cases of hereditary hearing loss and occurs in both syndromic and non-syndromic forms. POU3F4 is the gene most commonly associated with X-linked deafness (DFNX2, DFN3) and accounts for about 50% of the cases of X-linked non-syndromic hearing loss. This gene codes for a transcription factor of the POU family that plays a major role in the development of the middle and inner ear. The clinical features of POU3F4-related hearing loss include a pathognomonic malformation of the inner ear defined as incomplete partition of the cochlea type 3 (IP-III). Often, a perilymphatic gusher is observed upon stapedectomy during surgery, possibly as a consequence of an incomplete separation of the cochlea from the internal auditory cana

SUBMITTER: Bernardinelli E 

PROVIDER: S-EPMC10296620 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature