一个常染色体显性遗传非综合征型聋家系分析  

Clinical and genetic features of a large Chinese family with nonsydromic autosomal dominant hearing loss

作　　者：张秀菊[1,2] 程静[1] 卢宇[1] 王燕飞[1] 张蕾[1] 袁慧军[1] 韩东一[1] 

机构地区：[1]解放军总医院耳鼻咽喉头颈外科耳鼻喉科研究所,北京100853 [2]南开大学医学院,天津300071

出　　处：《中华耳科学杂志》2014年第1期61-67,共7页Chinese Journal of Otology

摘　　要：目的分析一个连续5代遗传的常染色体显性遗传性聋家系的临床听力学及遗传学特征。方法对一个常染色体显性遗传高频感音神经性聋家系成员进行全面体检及临床听力学检查,整理、分析家系资料,确定遗传规律,绘制遗传图谱并进行听力学特征分析。应用Sanger测序技术对该家系成员进行候选基因鉴定。结果该耳聋家系遗传方式为常染色体显性遗传,发病年龄各代间较稳定,在30-45岁之间。听力学表型为代代相传、迟发性、渐进性的中度至重度听力损失,患者早期以高频听力下降为主,随着年龄增长逐渐累及全频听力。应用Sanger测序技术进行候选基因鉴定,未发现致聋突变位点。结论该家系遗传学特征符合常染色体显性遗传方式,听力学具有早期高频听力下降并逐渐累及全频的特征,在候选基因中进行测序未发现致聋突变位点。因此希望通过对家系进一步的表型分析或者运用新一代测序技术,可以找到该家系的致聋基因。Objective To investigate the clinical and genetical characteristics of a Chinese family with an autoso- real-dominant inherited sensorineural hearing loss. Method This pedigree associated with an autosomal-dominant inherit- ed high-frequency sensorineural hearing loss was investigated. All study participants medical and detailed audiological exam- ination was performed. Candidate genes were accepted verification by Sanger sequencing. Result A Chinese family XS-512 with nonsyndromic autosomal dominant hearing loss was ascertained. The affected members showed postlingual, progressive, bilateral moderate to severe sensorineural hearing loss. The age of onset varied from 30 to 45 years. The audiograms was se- vere at the high frequencies early, lower frequencies became involved with increasing age, and gradually accumulated all fre- quencies of hearing. Candidate genes were preliminary excluded by Sanger sequencing. Conclusion Pedigree analysis sug- gested an autosomal-dominant inheritance pattern in this family. The hearing loss began at high frequencies, and lower fre- quencies became involved with increasing age. By means of Sanger sequencing, no causative gene was found. We are looking forward to find the causative gene by the further phenotype analysis or by the NGS （next generation sequencing）.

关 键 词：常染色体显性遗传 遗传性聋 表型 全基因组扫描 

分 类 号：R764.43[医药卫生—耳鼻咽喉科] R349.6[医药卫生—临床医学]