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1
Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.全外显子测序和纯合子作图确定细胞极性蛋白 GPSM2 中的突变是常染色体隐性遗传性耳聋 DFNB82 的致病原因。
Am J Hum Genet. 2010 Jul 9;87(1):90-4. doi: 10.1016/j.ajhg.2010.05.010. Epub 2010 Jun 17.
2
A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.一个 SERPINB6 基因的截断突变与常染色体隐性遗传非综合征型感音神经性听力损失相关。
Am J Hum Genet. 2010 May 14;86(5):797-804. doi: 10.1016/j.ajhg.2010.04.004. Epub 2010 May 6.
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Polarization of Drosophila neuroblasts during asymmetric division.果蝇神经母细胞在不对称分裂过程中的极化。
Cold Spring Harb Perspect Biol. 2009 Aug;1(2):a001388. doi: 10.1101/cshperspect.a001388.
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Annu Rev Genet. 2009;43:411-37. doi: 10.1146/annurev-genet-102108-134135.
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Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?导致非综合征性听力障碍的46个基因：在DNA诊断中应分析哪些基因？
Mutat Res. 2009 Mar-Jun;681(2-3):189-196. doi: 10.1016/j.mrrev.2008.08.002. Epub 2008 Aug 29.
6
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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.

DOI:10.1111/j.1399-0004.2011.01654.x
PMID:21348867
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3657750/
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。