Investigation of clinical features and detection of 79 known deafness genes in a large Chinese family with dominant non-syndromic hearing loss
10.3760/cma.j.issn.1673-0860.2014.08.008
- VernacularTitle:一个常染体显性非综合征型耳聋大家系的临床特征及79个已知耳聋基因的检测分析
- Author:
Xiaojiang LIN
1
;
Dongye CHEN
;
Hao WU
;
Tao YANG
;
Dan ZHANG
;
Yongchuan CHAI
Author Information
1. 324300,浙江省开化县人民医院耳鼻咽喉头颈外科
- Keywords:
Hearing loss,sensorineural;
DNA mutational analysis;
Pedigree
- From:
Chinese Journal of Otorhinolaryngology Head and Neck Surgery
2014;49(8):654-658
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the clinical and genetic characteristics of a large family with late-onset,progressive autosomal dominant non-syndromic hearing loss.Methods Collections of detail history hereditary features,physical and audiological examination were performed.After mutation screening of GJB2,SLC26A4,MTRNR1 (12SrRNA) genes by Sanger sequencing,the proband was investigated by targeted next-generation sequencing of 79 deafness genes.Results This family included seven generations and 73 members.Eleven persons with hearing loss and 11 normal-hearing persons participated in this study.All affected members but one exhibited late-onset,progressive non-syndromic sensorineural hearing loss; the ages of onset were between 9 and 30 years.Mutation screening by sanger-sequencing and targeted next-generation sequencing excluded the possibility of pathogenic mutations within known deafness gene.Conclusions A Chinese family with late-onset progressive non-syndromic sensorineural hearing loss was investigated clinically and genetically.By candidate gene approach and targeted next-generation sequencing,this family was preliminary proved to be caused by unknown deafness gene.
