GPSM2 中的截断突变与隐性非综合征性听力损失有关。
A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss.
机构信息
Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA.
出版信息
Clin Genet. 2012 Mar;81(3):289-93. doi: 10.1111/j.1399-0004.2011.01654.x. Epub 2011 Mar 15.
Abstract
Hereditary deafness is a genetically heterogeneous phenotype for which more than 100 genomic loci have been identified thus far. By analysis of a consanguineous Palestinian family, GPSM2 was recently discovered to be the cause of autosomal recessive non-syndromic hearing loss DFNB82. Here, we report a second truncating mutation, GPSM2 p.Q562X, identified via autozygosity mapping in a consanguineous Turkish family. This report provides evidence for allelic heterogeneity of GPSM2 and confirms its causative role for non-syndromic deafness.
摘要
遗传性耳聋是一种遗传异质性表型，迄今为止已经确定了 100 多个基因组位点。通过对一个巴勒斯坦近亲家庭的分析，最近发现 GPSM2 是常染色体隐性非综合征性听力损失 DFNB82 的致病基因。在这里，我们报告了第二个截短突变 GPSM2 p.Q562X，该突变是通过对一个近亲土耳其家庭的自交分析确定的。本报告提供了 GPSM2 等位基因异质性的证据，并证实了其在非综合征性耳聋中的致病作用。
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