中华耳科学杂志2017，Vol.15Issue(1)：57-60,4.DOI:10.3969/j.issn.1672-2922.2017.01.012
高通量基因捕获测序技术在一遗传性耳聋大家系中的应用
A next-generation sequencing gene panel for molecular diagnosis in a large Chinese family with autosomal dominant hearing loss
摘要
Abstract
Objective To investigate the clinical features of a large Chinese family with progressive autosomal dominant hearing loss, and to search for candidate mutational genes. Methods Collections of detailed medical history, physical examinations, audiologic testing, and CT scan of the temporal bones were performed, and genomic DNA was extracted from peripheral blood samples of the family members. The inheritance model of the family was evaluated. 137 deafness genes of the proband were captured and sequenced by targeted next-generation sequencing (NGS), and the re-sults were confirmed by Sanger sequencing.Results This family has 28 members in 4 generations, of whom 9 persons are affected. All affected family members exhibit late-onset, progressive non-syndromic sensorineural hearing loss. The ages of onset were between 6 and 18 year-old. Two heterozygous missenses (MYH14 mutation c.359C>T and COL11A2 c.4478G>A) were identified. Variants were further confirmed by Sanger sequencing. Only the MYH14 muta-tion was co-segregated with autosomal dominant hearing loss phenotype. Conclusions The heterozygous MYH14 muta-tion c.359C>T is responsible for the autosomal dominant sensorineural hearing loss in this Chinese family, and this re-port confirms that targeted NGS technique is a feasible and more cost-effective tool to detect causative mutations in he-reditary hearing loss.关键词
常染色体显性遗传/耳聋/家系/外显子捕获/基因突变Key words
Autosomal dominant inheritance/Hereditary hearing loss/Pedigree/Targeted exome sequencing/Gene mutation分类
医药卫生引用本文复制引用
孙菲菲,胡松群,张洁,吴笛,张启成,盛菊萍,张鲁平..高通量基因捕获测序技术在一遗传性耳聋大家系中的应用[J].中华耳科学杂志,2017,15(1):57-60,4.基金项目
1南通市科技计划前沿与关键技术创新基金(MS22015048) （MS22015048）
2南通大学研究生科研创新资助项目(YKC16110) （YKC16110）
3国家自然科学基金项目(81641155) 1 Nantong science and technology plan frontier and key technology innovation fund(MS22015048) （81641155）
2 （）
the postgraduate innova-tion program from Nantong University, YKC16110 （）
3 National Science Foundation of China 81641155. （）
