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Sci Rep：EYA4变异引起的听力损失患病率和临床特性研究

2020-03-17 AlexYang MedSci原创

听力损失 临床特征 基因变异
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已知EYA4基因变异能够导致常染色体显性非综合征遗传听力损失，DFNA10。到目前为止，在不同的民族中已经鉴定了30个变异与听力损失有关。为了更高的理解DFNA10的临床特征和流行情况，研究人员在一个

已知EYA4基因变异能够导致常染色体显性非综合征遗传听力损失，DFNA10。到目前为止，在不同的民族中已经鉴定了30个变异与听力损失有关。为了更高的理解DFNA10的临床特征和流行情况，研究人员在一个大的日本听力损失患者群体中对EYA4变异进行了遗传筛选。

研究选择了1336名常染色体显性听力损失患者作为研究群体，并对所有患者的68个基因进行了靶向基因组富集和大规模平行测序。EYA4变异的临床案例信息从医疗记录中收集并分析。研究人员在1336个常染色体显性听力损失家族的中12个渊源者中发现了11个新的EYA4变异（三个移码突变、三个错义突变、两个无义突变、一个剪接突变和两个单拷贝数损失）和2个之前报道过的变异。截断变异体的听力结构在所有的频率均倾向于恶化，而非截断变异体则表现出高频听力损失，表明了DFNA10中存在基因型和表型的相关性。另外，EYA4变异引起的听力损失恶化为0.63dB每年，且与之前的报道相似。

原始出处：

Shinagawa J， Moteki H， Nishio SY et al. Prevalence and clinical features of hearing loss caused by EYA4 variants. Sci Rep. 27 Feb 2020.

 

评论区 (4)
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    2020-05-06 clmlylxy

    #临床特性#

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    2020-03-19 xinmeili

    #患病率#

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    2020-03-19 ysjykql

    #听力#

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    2020-03-19 12498dabm77暂无昵称

    #变异#

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