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Mol Med Rep :CHM基因的移码突变引起伴有急性闭角型青光眼的无脉络膜症

2018-04-25 cuiguizhong MedSci原创

中南大学信息科学与工程学院的Ouyang P和中南大学湘雅二医院眼科Li Y 近日在Mol Med Rep发表了一篇文章,他们描述了无脉络膜症家族的临床和遗传特征。

中南大学信息科学与工程学院的Ouyang P和中南大学湘雅二医院眼科Li Y 近日在Mol Med Rep发表了一篇文章,他们描述了无脉络膜症家族的临床和遗传特征。

无脉络膜症是一种X连锁隐性脉络膜视网膜退行性疾病,其发病特征表现为光感受器、视网膜色素上皮细胞(RPE)和脉络膜毛细血管层逐渐丢失。CHM基因[无脉络膜症(Rab护卫蛋白1)]被认为是无脉络膜症的致病基因。

他们招募了具有严重脉络膜视网膜萎缩和色素增生、浅前房、角度闭合和高眼压(IOP)的无脉络膜症家族患者。受到影响的家庭成员接受了全面的眼科检查。从确诊者II:1和患者II:2获得DNA样品,进行CHM基因的靶向外显子组测序。使用PCR扩增和Sanger测序验证家庭成员的变异。

结果他们在CHM中发现了一种新的移码突变c.280delA(p.Thr94LeufsTer32)。这种移码突变在男性确诊者中、正常携带者I:2和表型携带者II:2中存在,但在正常个体II:3中以及在200个对照组中没有发现。通过Clustal Omega比较多个物种之间CHM的氨基酸序列,表明这些突变位点中的氨基酸非常保守。另外,他们在家族中的女性个体携带者中进行X染色体失活(XCI)测定,其中异常携带者II:2和正常携带者I:2的DNA显示出随机的XCI模式。

总之,这项研究强烈表明,c.280delA突变是伴有急性闭角型青光眼的无脉络膜症家系中的致病突变。

原文出处:

Ouyang, P., et al., A frameshift mutation in the CHM gene causes choroideremia with acute angleclosure glaucoma. Mol Med Rep, 2018.

本文系梅斯医学(MedSci)原创编译整理,转载需授权!

 

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    2018-12-15 tulenzi
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