J Med Genet:RIPOR2框内缺失是成年人听力损失发病的高频和高发原因

2020-07-26 AlexYang MedSci原创

听力损失是世界范围内最常见的残疾之一,对生活质量有着明显的影响。成年人听力损失发病是高度遗传的,但是遗传原因不清楚,且于儿童起始听力损失是不同的。

听力损失是世界范围内最常见的残疾之一,对生活质量有着明显的影响。成年人听力损失发病是高度遗传的,但是遗传原因不清楚,且与儿童起始听力损失是不同的。

最近,有研究人员进行了包括外显子测序和听力类型鉴定在内的家族和队列研究。研究发现,RIPOR2框内12个核苷酸缺失是成年人听力损失起始高发的一个原因,并且在12个家族中以常染色体显性性状分离。具有该框内缺失的63名受试者中表现出了不同的听力测定特征,且听力损失发病的平均年龄(SD)为30.6(14.9)岁(范围为0-70岁)。RIPOR2变异体在耳蜗毛细胞立体纤毛中定位异常,且不能恢复RIPOR2缺失毛细胞中的形态学缺陷,阐释了RIPOR 2变异体的功能。另外,引人注目的是,RIPOR2变异体在22952名个体中存在,且没有表现为听力损失。

最后,研究人员指出,他们的数据阐释了成年人听力损失起始的一个相对常见的遗传方式,并潜在的使得荷兰数千人处在听力损失风险。因此,RIPOR2是开发遗传治疗策略的一个很有吸引力的靶标。

原始出处:

Suzanne E de Bruijn, Jeroen J Smits, Chang Liu et al. A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss. J Med Genet. 06 July 2020.

 

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    2021-01-18 canlab
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    2020-08-15 cy0324
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    2020-07-28 ysjykql
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    2020-07-28 dzx0922892
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