中华耳科学杂志Issue(1)：61-67,7.DOI:10.3969/j.issn.1672-2922.2014.01.016
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
张秀菊 1程静 2卢宇 1王燕飞 1张蕾 1袁慧军 1韩东一1
作者信息
- 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
- 折叠
摘要
Abstract
Objective To investigate the clinical and genetical characteristics of a Chinese family with an autoso-mal-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Key words
autosomal-dominant/hearing loss/hereditary/phenotype/NGS分类
医药卫生引用本文复制引用
张秀菊,程静,卢宇,王燕飞,张蕾,袁慧军,韩东一..一个常染色体显性遗传非综合征型聋家系分析[J].中华耳科学杂志,2014,(1):61-67,7.
