M34T and V37I mutations in GJB2 associated hearing impairment:: Evidence for pathogenicity and reduced Penetrance
M34T and V37I mutations in GJB2 associated hearing impairment:: Evidence for pathogenicity and reduced Penetrance
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DOI：
10.1002/ajmg.a.31982
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发表时间：
2007-11-01
影响因子：
2
通讯作者：
Ploski, Rafal
中科院分区：
文献类型：
--
作者：
Pollak, Agnieszka;Skorka, Agata;Ploski, Rafal
尽管有研究，但GJB2的M34T和V371变异在导致听力障碍(HI)中的作用仍然存在争议。我们的目的是验证一种假设，即M34T和V371是致病的，但具有导致外显性降低的不同特征。我们筛查了已知的GJB2/GJB6突变233名波兰连续无亲缘关系的非综合征感觉神经性HI患者，他们之前被发现在一条染色体上携带35delG突变。最常见的突变也在类似的1000名对照组中进行了分析。我们发现M34T和V371的差异显著(p<0.05)。
Despite research the role of the M34T and V371 variants of GJB2 in causing hearing impairment (HI) remains controversial. Our purpose was to test a hypothesis that M34T and V371 are pathogenic but have distinct features resulting in a reduced penetrance. We screened for known GJB2/GJB6 mutations 233 Polish consecutive unrelated subjects with non-syndromic, sensorineural HI who were previously found to carry 35delG Mutation on one chromosome. The most frequent mutations were also analyzed in similar to 1,000 controls. We found that M34T and V371 were significantly (p