A novel mutation in POU3F4 in a Chinese family with X-linked non-syndromic hearing loss  

作　　者：Bang-qing Huang Jia-ling Zeng Yong-yi Yuan Pu Dai 

机构地区：[1]Department of Otorhinolaryngology, Hainan Branch of PLA General Hospital [2]Department of Otorhinolaryngology, PLA General Hospital

出　　处：《Journal of Otology》2015年第2期78-82,共5页中华耳科学杂志（英文版）

基　　金：supported by Chinese National Nature Science Foundation(81230020);grant from Minister of Science and Technology of China(2012BAI09B02)to P.D.;Chinese National Nature Science Foundation(81371098);Beijing Natural Science Foundation(7132177);Beijing Nova programme(2009B34)to Y.Y.Y

摘　　要：Objective： Based on the clinical manifestations of a hearing loss patient, the POU3F4 gene was tested for diagnosis of etiology. Methods： A comprehensive physical examination was performed on the proband to exclude abnormalities of other organs, and detailed audi- ological testing and temporal bone CT scan were also performed. Genomic DNA was extracted using the proband＇s peripheral blood leukocytes. Polymerase chain reactions （PCR） were performed in the coding sequence of the POU3F4 gene. Direct DNA sequencing was subsequently applied to screen the entire coding region of the POU3F4 gene. Results： The proband had severe sensorineural hearing loss. Temporal CT showed bilateral cochlear incomplete partition, vestibule dysplasia, internal auditory canal fundus expansion, and cochlear interlink with the internal auditory canal fundus. A novel mutation （c.530C 〉 A （p.S 177X）） in the POU3F4 gene was found in this patient, creating an new stop codon and was predicted to result in a truncated protein lacking normal POU3F4 transcription factor function. Conclusion： Through analysis of the POU3F4 gene and clinical manifestations in the patient, we conclude that a novel mutation may have resulted in a premature stop codon, contributing to the mutation of POU3F4 gene.Objective： Based on the clinical manifestations of a hearing loss patient, the POU3F4 gene was tested for diagnosis of etiology. Methods： A comprehensive physical examination was performed on the proband to exclude abnormalities of other organs, and detailed audi- ological testing and temporal bone CT scan were also performed. Genomic DNA was extracted using the proband＇s peripheral blood leukocytes. Polymerase chain reactions （PCR） were performed in the coding sequence of the POU3F4 gene. Direct DNA sequencing was subsequently applied to screen the entire coding region of the POU3F4 gene. Results： The proband had severe sensorineural hearing loss. Temporal CT showed bilateral cochlear incomplete partition, vestibule dysplasia, internal auditory canal fundus expansion, and cochlear interlink with the internal auditory canal fundus. A novel mutation （c.530C 〉 A （p.S 177X）） in the POU3F4 gene was found in this patient, creating an new stop codon and was predicted to result in a truncated protein lacking normal POU3F4 transcription factor function. Conclusion： Through analysis of the POU3F4 gene and clinical manifestations in the patient, we conclude that a novel mutation may have resulted in a premature stop codon, contributing to the mutation of POU3F4 gene.

关 键 词：POU3F4 DFNX2 New mutation 

分 类 号：R764[医药卫生—耳鼻咽喉科]