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Curr Genomics:OTOF 中的一个移码突变与听神经病谱系障碍相关

2018-08-07 AlexYang MedSci原创

听神经病谱系障碍(ANSD)主要表现为听觉神经活性的损伤,但是外听毛细胞功能保留。最近,有研究人员在一个中国ANSD家庭中检测了引起疾病的基因和变异。研究包括了一个具有血缘关系的4代中国ANSD家庭和200名不相关的健康对照。研究人员进行了外显子组测序和Sanger测序来鉴定ANSD的遗传偏向性。研究发现,外显子组测序在耳铁蛋白基因中发现了一个c.1236delC变异,并且是纯合状态。Sanger

听神经病谱系障碍(ANSD)主要表现为听觉神经活性的损伤,但是外听毛细胞功能保留。最近,有研究人员在一个中国ANSD家庭中检测了引起疾病的基因和变异。

研究包括了一个具有血缘关系的4代中国ANSD家庭和200名不相关的健康对照。研究人员进行了外显子组测序和Sanger测序来鉴定ANSD的遗传偏向性。研究发现,外显子组测序在耳铁蛋白基因中发现了一个c.1236delC变异,并且是纯合状态。Sanger测序确定了该变异与中国家庭中听力损伤的表型出现共分离。并且,该变异在200个对照中并没有检测到。c.1236delC变异可能导致了耳铁蛋白减短,并丢失了C2C-C2F结构域和C末端的跨膜结构域,因此严重的损伤了钙离子依赖的突触小泡融合和耳铁蛋白的靶向功能。

最后,研究人员指出,他们的研究表明了耳铁蛋白中的c.1236delC变异也许是该中国家庭的致病基因,为该ANSD家庭的遗传咨询提供新的见解。

原始出处:

Xia H, Huang X, Xu H et al. An OTOF Frameshift Variant Associated with Auditory Neuropathy Spectrum Disorder. Curr Genomics. Aug 2018.

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    2018-12-08 daviiliu
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    2018-08-10 liumin1987

    学习学习。

    0

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    2018-08-09 axin012
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