中华耳科学杂志Issue(1)：57-60,4.DOI:10.3969/j.issn.1672-2922.2014.01.015
一个X连锁隐性遗传耳聋基因POU3F4的新突变
A novel POU3F4 gene mutation for X-linked recessive hereditary hearing loss
摘要
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.关键词
POU3F4/耳聋/新突变Key words
POU3F4/deafness/new mutation分类
医药卫生引用本文复制引用
黄邦清,曾佳玲,苏钰,黄莎莎,袁永一,王国建,赵辉,戴朴..一个X连锁隐性遗传耳聋基因POU3F4的新突变[J].中华耳科学杂志,2014,(1):57-60,4.基金项目
国家自然科学基金重点项目（81230020）；国家十二五支撑项目（2012BAIB02）；卫生部行业专项基金（201202005）；国家自然科学基金面上项目（81371096，81371098）；北京市自然科学基金面上项目（7122172，7132177）；北京市科技新星计划 （）
