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Journal of Genetics and Genomics 2010年第12期37卷 787-793页

作者： Jianzhong Li Jing Cheng Yanping Lu Yu Lu Airing Chen YiSun Dongyang Kang Xin Zhang Pu Dai Dongyi Han Huijun Yuan Institute of Otolaryngology Chinese PLA General Hospital Beijing 100853 China Department of Otolaryngology Fuzhou General Hospital of Nanjing Command PLA Fuzhou 350025 China Department of Obstetrics and Gynecology General Hospital of PLA Beijing 100853 China

We present the clinical and genetic findings for a Chinese family with X-linked non-syndromic hearing loss in which the affected males showed congenital profound sensorineural hearing impairment. In two affected brothers, the computer tomography of temporal bone showed bilateral dilation of the internal auditory canal with fistulous communication between the lateral canal and the basal cochlear turn, which is consistent with the typical DfNX2 phenotype. A missense mutation （c.647G→A） in the pou3f4 gene caused a substitu- tion from glycine to glutamic acid at position 216 （p.G216E）, and this mutation was found to consistently cosegregate with the deafness phenotype in the family. The mutation resulted in the loss of function of the pou3f4 by decreasing the affinity between the protein and DNA, as shown in silico by the structural analysis. Prenatal diagnosis of pregnant proband of this family revealed the c.647G→A mutation in DNA extracted from the amniotic fluid surrounding the fetus. The appropriate use of genetic testing and prenatal diagnosis plays a key role in reducing the recurrence of genetic defects in high-risk families.

关键词： DfNX2 pou3f4 mutation prenatal diagnosis

A novel mutation in pou3f4 in a Chinese family with X-linked non-syndromic hearing loss

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Journal of Otology 2015年第2期10卷 78-82页

作者： Bang-qing Huang Jia-ling Zeng Yong-yi Yuan Pu Dai Department of Otorhinolaryngology Hainan Branch of PLA General Hospital Department of Otorhinolaryngology PLA General Hospital

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

A pou3f4 Mutation Causes Nonsyndromic Hearing Loss in a Chinese X-linked Recessive family

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Chinese Medical Journal 2017年第1期130卷 88-92页

作者： Wan Du Ming-Kun Han Da-Yong Wang Bing Han Liang Zong Lan Lan Ju Yang Qi Shen Lin-Yi Xie Lan Yu Jing Guan Qiu-Ju Wang Department of Otolaryngology Head and Neck Surgery Institute of Otolaryngology Chinese People's Liberation Army General Hospital Beijing 100853 China

Background： The molecular genetic research showed the association between X-linked bearing loss and mutations in pou3f4. This research aimed to identify a pou3f4 mutation in a nonsyndromic X-linked recessive hearing loss family. Methods： A series of clinical evaluations including medical history, otologic examinations, l：amily history, audiologic testing, and a high-resolution computed tomography scan were performed t＇or each patient. Bidirectional sequencing was carried out for all polymerase chain reaction products or＇the samples. Moreover, 834 controls with normal hearing were also tested. Results： The pedigree showed X-linkage recessive inheritance pattern, and pathogenic mutation （c.499C〉T） was identified in the proband and his family member, which led to a premature termination prior to the entire pou domains. This mutation co-segregated with bearing loss in this family. No mutation ofpou3f4 gene was found in 834 controls. Conclusions： A nonsense mutation is identified in a family displaying the pedigree consistent with X-linked recessive pattern in pou3f4 gene. In addition, we may provide molecular diagnosis and genetic counseling for this family.

关键词： c.499C〉T Nonsyndromic Hearing Loss pou3f4 X-linked

中国Y连锁遗传性聋DfNY1家系pou3f4基因突变的检测

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中华耳鼻咽喉头颈外科杂志 2005年第5期40卷 323-326页

作者：王秋菊韩东一杨伟炎解放军总医院耳鼻咽喉头颈外科解放军耳鼻咽喉科研究所北京00853

目的　进行Y连锁遗传性聋(Y linkedhereditaryhearingimpairment)家系的候选基因———pou3f4基因的突变分析。方法　在pou3f4基因的全部编码序列设计5对引物进行聚合酶链反应(polymerasechainreaction,PCR)扩增反应。应用PCR 单链构像... 详细信息

目的　进行Y连锁遗传性聋(Y linkedhereditaryhearingimpairment)家系的候选基因———pou3f4基因的突变分析。方法　在pou3f4基因的全部编码序列设计5对引物进行聚合酶链反应(polymerasechainreaction,PCR)扩增反应。应用PCR 单链构像多态性(single strandconformationpolymorphismSSCP)方法对DfNY1家系中的43名成员进行突变检测及鉴定。结果pou3f4基因的5对引物均有较好的扩增效果,PCR SSCP的多态性分析显示所有家系成员在pou3f4基因中均未检测到多态及突变。结论　本研究通过对一个位于X染色体与Y染色体存在同源交换区域的耳聋基因pou3f4基因的检测排除了该基因易位到Y染色体导致DfNY1家系耳聋的可能性,说明中国Y连锁遗传性聋家系的致病基因更多可能是位于Y染色体上的基因突变所致。

关键词：中国 Y染色体连锁遗传性聋 DfNY1家系 pou3f4 基因突变

一个X连锁隐性遗传耳聋基因pou3f4的新突变

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中华耳科学杂志 2014年第1期12卷 57-60页

作者：黄邦清曾佳玲苏钰黄莎莎袁永一王国建赵辉戴朴解放军总医院海南分院耳鼻咽喉头颈外科海南572000 解放军总医院耳鼻咽喉头颈外科北京100853

目的基于耳聋患者的临床表现,选定pou3f4基因作为检测对象,为患者提供病因学诊断。方法对先证者进行全面的体格检查,排除其他器官病变,并进行详细的听力学及颞骨CT检查。提取先证者外周血白细胞基因组DNA,运用聚合酶链反应的方法,对先证... 详细信息

目的基于耳聋患者的临床表现,选定pou3f4基因作为检测对象,为患者提供病因学诊断。方法对先证者进行全面的体格检查,排除其他器官病变,并进行详细的听力学及颞骨CT检查。提取先证者外周血白细胞基因组DNA,运用聚合酶链反应的方法,对先证者pou3f4基因进行扩增,直接测序法对pou3f4基因进行全部编码序列检测。结果先证者表现出极重度感音神经性聋。颞骨CT显示双侧耳蜗分隔不全、前庭发育不良、内听道底膨大、耳蜗和内听道底相通。基因检测发现该患者pou3f4基因存在一个新的突变(c.530C>A(p.S177X)),该位点改变导致终止密码子提前出现,使pou3f4转录因子不能发挥其正常的功能。结论通过对该患者pou3f4基因的序列分析,发现了一个明确致病的新的提前终止的突变位点,丰富了pou3f4基因的突变谱。

关键词： pou3f4 耳聋新突变

X连锁混合性聋伴外淋巴镫井喷患者pou3f4基因的分子学分析

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国际耳鼻咽喉头颈外科杂志 1998年第6期 362-362页

中国Y连锁遗传性聋DfNY1家系pou3f4基因突变的检测

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中国医学文摘(耳鼻咽喉科学) 2006年第1期 40-40页

作者：王秋菊韩东一杨伟炎

目的:进行Y连锁遗传性聋(Y-linked hereditary hearing impairment)家系的候选基因——pou3f4基因的突变分析。方法: 在pou3f4基因的全部编码序列设计5对引物进行聚合酶链反应 (polymerase chain reaction,PCR)扩增反应。应用PCR-单链... 详细信息

目的:进行Y连锁遗传性聋(Y-linked hereditary hearing impairment)家系的候选基因——pou3f4基因的突变分析。方法: 在pou3f4基因的全部编码序列设计5对引物进行聚合酶链反应 (polymerase chain reaction,PCR)扩增反应。应用PCR-单链构像多态性(single-strand conformation polymorphism SSCP)方法对DfNY1 家系中的43名成员进行突变检测及鉴定。结果:pou3f4基因的5 对引物均有较好的扩增效果,PCR-SSCP的多态性分析显示所有家系成员在pou3f4基因中均未检测到多态及突变。结论:本研究通过对一个位于X染色体与Y染色体存在同源交换区域的耳聋基因pou3f4 基因的检测排除了该基因易位到Y染色体导致DfNY1家系耳聋的可能性,说明中国Y连锁遗传性聋家系的致病基因更多可能是位于Y染色体上的基因突变所致。图2表1参10

关键词：遗传性聋 DfNY1 家系家族亲缘关系基因突变点突变 pou3f4 中华人民共和国

第三代测序技术在遗传性耳聋基因拷贝数变异检测的临床应用

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中华耳科学杂志 2021年第2期19卷 227-231页

作者：王秋权黄莎莎袁永一康东洋吴婕张昕戴朴中国人民解放军总医院耳鼻咽喉头颈外科医学部国家耳鼻咽喉疾病临床医学研究中心聋病教育部重点实验室聋病防治北京市重点实验室北京100853

目的应用第三代测序技术(TGS)明确一例伴内耳畸形的男性聋儿的分子病因,并探讨TGS用于临床检测遗传性耳聋基因CNVs的可行性。方法应用基于纳米孔测序技术的TGS平台(Oxford Nanopore)对先证者行全基因组结构变异检测,对于检测到的基因组C... 详细信息

目的应用第三代测序技术(TGS)明确一例伴内耳畸形的男性聋儿的分子病因,并探讨TGS用于临床检测遗传性耳聋基因CNVs的可行性。方法应用基于纳米孔测序技术的TGS平台(Oxford Nanopore)对先证者行全基因组结构变异检测,对于检测到的基因组CNVs应用Sanger测序进行家系验证。结果TGS检测提示患儿Xq21.1(chrX:81079396-84457540)区域存在约3.38Mb、包含pou3f4基因的半合子缺失变异,确定了其准确的断点位置。经Sanger测序验证,且明确变异来源于母亲。通过排除其他基因致病性,最终确定pou3f4基因缺失为致病原因。结论TGS能够有效提供基因拷贝数变异信息及精确定位断点,可为遗传性耳聋分子诊断及进一步遗传咨询提供更有价值的信息,对耳聋出生缺陷的预防具有临床指导意义。

关键词：遗传性耳聋内耳畸形拷贝数变异三代测序 pou3f4