首页|期刊导航|中华医学杂志（英文版）|Phenotype and genotype analysis of a Chinese family with prelingual X-linked hereditary hearing impairment
中华医学杂志（英文版）2009，Vol.122Issue(7)：830-833,4.DOI:10.3760/cma.j.issn.0366-6999.2009.07.013
Phenotype and genotype analysis of a Chinese family with prelingual X-linked hereditary hearing impairment
Phenotype and genotype analysis of a Chinese family with prelingual X-linked hereditary hearing impairment
摘要
Abstract
Background X-linked hearing impairment is clinically and genetically a heterogeneous disease.Although many disorders manifest with hearing loss,a limited number of sex-linked loci and only one gene (POU3F4) have been shown to be implicated in X-linked non-syndromic hearing impairment.In the present study,we have performed a clinical and genetic analysis of a Chinese family with X-linked non-syndromic hearing loss,with emphasis on audiological findings and genomic mapping.Methods The clinical features of Family JX01 were evaluated by physical and audiometric examination in eighteen family members.Mutation screening of POU3F4 was identified by polymerase chain reaction (PCR) amplification and sequencing.Molecular evaluation consisted of X-chromosome wide genotyping by microsatellite makers (STR),followed by analyzing using MLINK computer program.Results Five affected males demonstrated bilateral,symmetrical sensorineural and profound hearing loss.The hearing impairment started prelingual.The female carriers did not have any complain of hearing loss,however,two of them were tested with milder loss with high frequency.No causative mutations in POU3F4 gene were detected by DNA sequencing.Linkage analysis indicated that the responsible gene was linked to locus DXS1227 (maximum lod score=2.04 at θ=0).Conclusions The affected males in Family JX01 have profound prelingual sensorineural hearing impairment,In addition,two female carriers showed mild to moderate hearing losses.However,none of females complained of any hearing loss.Analysis of hereditary deafness in this family mapped most compatibly to the Xq27.2.关键词
X-linked hearing impairment/linkage analysis/clinical featureKey words
X-linked hearing impairment/linkage analysis/clinical feature分类
医药卫生引用本文复制引用
HAN Bing,CHENG Jing,YANG Shu-zhi,CAO Ju-yang,SHEN Wei-dong,JI Fei,KANG Dong-yang,ZHANG Xin,DAI Pu,YUAN Hui-jun..Phenotype and genotype analysis of a Chinese family with prelingual X-linked hereditary hearing impairment[J].中华医学杂志（英文版）,2009,122(7):830-833,4.基金项目
This study was supported by grants from the National Natural Science Foundation of China (No.30528025 and 30571018). （No.30528025 and 30571018）
