中华耳科学杂志Issue(4)：571-574,4.DOI:10.3969/j.issn.1672-2922.2013.04.027
一常染色体显性遗传性耳聋家系基因的突变筛查及分析
Clinical and Genetic Characteristics of A Large Pedigree with Autosomal Dominant Inhereditary Non-Syndromic Hearing Impairment
摘要
Abstract
Objective To report clinical and genetic characters of a large family with autosomal dominant hereditary hear-ing loss.Methods After obtaining informed consent from the family members, we performed clinical and audiological exami-nations to rule out syndromic hearing impairment, and evaluated the inheritance mode in the family.The known deafness-asso-ciated genes were sequenced using the next-generation sequencing. Results The family had 122 members in 6 generations. Twenty four males and 12 females were found to be congenitally hearing-impaired. The mode of inheritance appeared to be au-tosomal dominant based upon the pedigree. Audiograms showed bilateral symmetric sensorineural hearing loss affecting all fre-quencies in this family.We did not find any known deafness-associated gene mutations by target sequence capture sequenc-ing technology. Conclusions Pedigree analysis indicates an autosomal dominant hereditary pattern in this family. Hearing loss in this family is congenital, bilateral, symmetric and sensorineural.The known deafness genes do not seem to contribute to the pathogenesis of the hearing loss in this family, suggesting involvement of new gene(s).关键词
常染色体显性遗传/听力检测/耳聋/基因突变/家系Key words
Autosomal dominant inheritance/hearing loss/hearing test/Pedigree/Gene mutation分类
医药卫生引用本文复制引用
刘金枝,孟庆霞,王馥新,王玮,史轶超,李红,程洪波,杨念,徐启云,林立强,顾晓,李钦,杨慎敏,王挺..一常染色体显性遗传性耳聋家系基因的突变筛查及分析[J].中华耳科学杂志,2013,(4):571-574,4.基金项目
江苏省卫生厅项目（苏卫科教Z201011）；苏州市科技局项目 （）
