14个耳聋家庭的临床特征及遗传学病因研究

Clinical and Molecular Diagnosis of Fourteen Chinese Families with Nonsyndromic Sensorineural Hearing Loss

赵军;孙菲菲;施健;唐艳;吴笛;邱金红;朱爱华;张鲁平;

1:江苏省海门市中医院耳鼻咽喉科

2:东南大学附属中大医院耳鼻咽喉科

3:南通大学附属医院耳鼻咽喉科

摘要
目的分析14个耳聋家庭的临床特征及遗传学病因。方法对14个耳聋家庭进行详尽的临床表型分析,对14个先证者采用十五项遗传性聋基因检测试剂盒(微阵列芯片法)进行常见的4种耳聋基因的15个突变位点检测;对未能确诊的先证者进一步使用定向捕获联合二代测序技术进行耳聋基因检测,对候选耳聋基因的突变位点进行Sanger测序验证。结果 14个耳聋家庭的20例耳聋患者表现为不同程度、双侧基本对称的感音神经性聋。9个耳聋家庭的患者为GJB2双等位基因突变致聋,家庭1~6分别为c.235delC/c.235delC,c.299delAT/c.299delAT,c.235delC/c.299delAT,c.176del16/c.299delAT,c.235delC/c.380G>T,c.109G>A/c.571T>C;家庭7、8同为c.235delC/c.176del16,家庭9为GJB2(c.109G>A/c.109G)合并TBC1D24(p.C386R)致聋。家庭10~13先证者为SLC26A4双等位基因突变致聋,分别是c.919-2A>G/c.919-2A>G,c.919-2A>G/c.1174A>T,c.919-2A>G/c.2167C>G,c.626G>A/c.2168A>G。家庭14先证者为MYO15A复合杂合突变c.6956+9C>G/c.10245_10247delCTC致聋,该突变是既往研究未曾报道的新发突变。结论本研究明确了14个非综合征型聋家庭的致病基因突变,同时证实以耳聋家庭为单位的两步法检测模式是一种高效的耳聋基因检测方法。
关键词
耳聋;GJB2;SLC26A4;MYO15A;基因突变
基金项目(Foundation):
国家自然科学基金项目(81641155);; 南通市科技计划前沿与关键技术创新基金(MS22015048)
作者
赵军;孙菲菲;施健;唐艳;吴笛;邱金红;朱爱华;张鲁平;
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