中华耳科学杂志Issue(2)：283-289,7.DOI:10.3969/j.issn.1672-2922.2014.02.25
大连地区108例非综合征性耳聋者及亲属耳聋基因测序结果分析
Deafness Gene Mutations among 108 Patients with Nonsyndromic Hearing Impairment in Dalian
刘秀丽 1石林 1孙月华 1姚艺文 1冯亚 1王路阳 1韩威 1霍俊 1侯佳琪1
作者信息
- 1. 大连医科大学附属第一医院耳鼻咽喉科 大连116011
- 折叠
摘要
Abstract
To investigate the deafness gene mutation in patients with nonsyndromic hearing impairment and their first-degree family relatives in Dalian. Methods A total of 108 subjects (98 new borns with nonsyndromic hearing impairment and 10 family relatives) were recruited. Pure tone audiometry, acoustic immittance audiometry and brainstem evoked poten-tials were tested. Peripheral blood samples were obtained, from which genomic DNA was extracted for PCR processing. Two mutation sites of mtDNA 12SrRNA genes and all the exons in four most common deafness pathologic gene were examined with the Ion torrent semiconductor sequencing method, including GJB2, GJB3, GJB6 and SLC26A4. Results Forty-five of the 108 participants (41.7%) and thirty-eight of the 98 patients(38.8%)showed pathologic gene mutation sites, involving 3 deafness gene and 23 mutation sites. We discovered a rare splice site mutation of SLC26A4 IVS15-2A>T gene. In 38 cases, 34 showed singgle gene mutation and 4 showeed double gene mutations. GJB2 mutations were seen in 27 cases (64.3%,27/42), SLC26A4 mutation were seen in 12 cases(28.6%,12/42)and GJB3 mutation were seen in 3 cases(7.1%,3/42). No case appeared GJB6、12s rRNA mutation. 33 cases who failed Universal Newborn Hearing Screening showed moderate to severe hearing loss by auditory brainstem response(ABR) test. Pathologic gene mutation was detected in 15 of them(45.5%,15/33).We detected 62 sporadic cases with bilateral neurosensory deaness ,20 of them appeared pathologic gene mutation (32.3%,20/62). Conclu-sion Pathologic gene mutation was detected in over 1/3 of the 98 nonsyndromichearingimpairment patients in Dalian. GJB2 mutation is the most common one. Genetic screening for these hot-spot mutations is the pivotal step for the diagnosis to high risk children who have passed Universal Newborn Hearing Screening and bilateral nuerosensory deafness cases.关键词
非综合征性耳聋/耳聋/基因突变Key words
Nonsyndromic hearing impairment NSHI/Deafness/Gene mutation分类
医药卫生引用本文复制引用
刘秀丽,石林,孙月华,姚艺文,冯亚,王路阳,韩威,霍俊,侯佳琪..大连地区108例非综合征性耳聋者及亲属耳聋基因测序结果分析[J].中华耳科学杂志,2014,(2):283-289,7.
