常染色体隐性迟发性听力损失(DFNB8):德国同胞中两个新的TMPRSS3突变的复合杂合性

Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings.

作者信息

Elbracht Miriam, Senderek Jan, Eggermann Thomas, Thürmer Christian, Park Jonas, Westhofen Martin, Zerres Klaus

机构信息

Institute of Human Genetics, University Hospital Aachen, Aachen, Germany.

出版信息

J Med Genet. 2007 Jun;44(6):e81. doi: 10.1136/jmg.2007.049122.

Abstract

Mutations in the transmembrane protease, serine 3 (TMPRSS3) gene, encoding a transmembrane serine protease, cause autosomal recessive deafness childhood (DFNB8) or congenital onset (DFNB10). TMPRSS3 mutations have been mainly identified in patients from Asian and Mediterranean countries and seem to be a rare finding in the Northern European population so far. The identification of two novel pathogenic TMPRSS3 mutations (c.646C-->T - R216C; c.916G-->A - A306T) is described in four affected siblings of German origin with postlingual hearing loss, treated by bilateral cochlear implantation with good results. Although TMPRSS3 mutations are supposed to be a rare cause of autosomal recessive hearing loss, in families with postlingual disease onset TMPRSS3 is the most favourable candidate gene after exclusion of GJB2 mutations.

摘要

跨膜蛋白酶丝氨酸3(TMPRSS3)基因发生突变,该基因编码一种跨膜丝氨酸蛋白酶,会导致常染色体隐性遗传性儿童期耳聋(DFNB8)或先天性耳聋(DFNB10)。TMPRSS3突变主要在亚洲和地中海国家的患者中被发现,迄今为止在北欧人群中似乎较为罕见。本文描述了在4名德国血统的受影响同胞中鉴定出的两个新的致病性TMPRSS3突变(c.646C→T - R216C;c.916G→A - A306T),这些患者患有语后听力损失,接受了双侧人工耳蜗植入治疗,效果良好。尽管TMPRSS3突变被认为是常染色体隐性听力损失的罕见病因,但在语后发病的家庭中,排除GJB2突变后,TMPRSS3是最有可能的候选基因。

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