<i>GJB</i>2显性突变在中国耳聋人群中的分布及表型分析

黄莎莎; 黄邦清; 袁永一; 王国建; 戴朴

doi:10.13201/j.issn.1001-1781.2014.22.005

GJB2显性突变在中国耳聋人群中的分布及表型分析

- 1 解放军总医院耳鼻咽喉头颈外科(北京, 100853);
- 2 解放军总医院海南分院耳鼻咽喉头颈外科
基金项目:
科技支撑计划(No:2012BAI09B00)

国际自然科学基金重点项目(No:81230020)

国家自然科学基金青年基金(No:81200751)

博士后面上项目(No:2013M542450)

详细信息

通讯作者: 戴朴,E-mail:daipu301@vip.sina.com

中图分类号: R764.43

收稿日期: 2014-09-01

The study of GJB2 dominant mutaion distribution in Chinese deafness patient and the analysis of phenotype

- 1 Department of Otorhinolaryngology-Head and Neck Surgery, General Hospital of PLA, Beijing, 100853, China;
- 2 Department of Otorhinolaryngology-Head and Neck Surgery, Hainan Branch of PLA General Hospital

More Information

Corresponding author: DAI Po, E-mail: daipu301@vip.sina.com

Received Date: 01 September 2014

摘要

摘要: 目的:GJB2相关性耳聋患者主要为常染色体隐性遗传,对其导致的显性突变及综合征型聋报道较少,本研究总结分析中国感音神经性聋患者中GJB2基因显性遗传突变情况。方法:收集解放军总医院耳鼻喉研究所聋病分子诊断中心GJB2基因相关耳聋患者1 641例,回顾性分析其GJB2基因突变情况,总结显性遗传突变谱,进行相关听力、皮肤等相关表型的分析。结果:1 641例GJB2相关耳聋患者中9例为显性遗传(0.55%),其中较常见的突变为R75W、G130V、R143Q、p.R184Q,听力表型主要为重度－极重度感音神经性聋。其中1例患者表现为感音神经性聋伴掌跖角化症。结论:GJB2显性遗传在中国耳聋患者中存在一定比例,综合征型较少见,其听力表型差异较大,但主要为重度-极重度感音神经性聋。
- 耳聋 /
- GJB2 /
- 显性遗传
Abstract: Objective:Mutations in the GJB2 are the most common cause of nonsyndromic autosomal recessive sensorineural hearing loss. A few mutations in GJB2 have also been reported to cause dominant nonsyndromic or syndromic hearing loss. This study analysised the GJB2 dominant mutation in Chinese deafness.Method:1 641 patients as GJB2-related hearing loss were enrolled, summarized the type of dominant mutaion, analyzed the hearing level and other systerm lesion.Result:Nine probands with severe-profound hearing loss were diagnosed as GJB2 domiant mutation (R75W、G130V、 R143Q、p.R184Q). And one patient with R75W mutation was diagosed as hearing loss and palmoplantar keratoderma.Conclusion:GJB2 dominant mutation can cause severe-to-profound bilateral sensorineural hearing impairment and not common with syndromic hearing loss in Chinese deafness.
- hearing loss /
- GJB2 /
- dominant inheritance

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