A novel POU3F4 gene mutation for X-linked recessive hereditary hearing loss
HUANG Bangqing
ZENG Jialing
SU Yu
HUANG Shasha
YUAN Yongyi
WANG Guojian
ZHAO Hui
DAI Pu
Abstract：Objective Base on the clinical manifestations of a deaf patient, POU3F4 gene was detected, and providing the diagnosis of etiology. Methods A comprehensive physical examination was performed for the proband, to exclude other organ’s disfunction, and detailed audiological testing and temporal bone CT scan were performed. Genomic DNA was extract-ed in the proband’s peripheral blood leukocytes. Polymerase chain reactions (PCR) were performed in the coding sequence of POU3F4 gene. Direct DNA sequencing was subsequently applied to screen the entire coding region of the POU3F4 gene. Results The proband was with severe sensorineural hearing loss. Temporal CT showed that bilateral cochlea incomplete parti-tion, vestibule dysplasia, internal auditory canal fundus expand, and the cochlea interlink with the internal auditory canal fun-dus. A novel mutation (c.530C>A (p.S177X)) in POU3F4 gene was found in the patient, creating an new stop codon and is predicted to results in a truncated protein lacking normal POU3F4 transcription factor function. Conclusion Through analy-sis the POU3F4 gene of the patient, we found a novel mutation causing premature stop codon, contributing to the mutation spectrum of POU3F4 gene.
Keywords：POU3F4deafnessnew mutation
Publication Date：2014-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 57-60 )