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GJB2 Mutations in Patients with Nonsyndromic Hearing Loss from Croatia

机译：GJB2突变Nonsyndromic患者听力损失从克罗地亚

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摘要

The aim of the study was to determine (1) the frequency and type of mutations in the coding region of the GJB2 gene (sequencing), (2) the frequency of splice site mutation IVS1 + 1G > A in the GJB2 gene (multiplex ligation— dependent probe amplification analysis), (3) possible copy number changes in the GJB2, GJB3, GJB6, and WFS1 genes (multiplex ligation—dependent probe amplification analysis), and (4) the frequency of del(GJB6-D13S1830) in the GJB6 gene in 58 unrelated patients with nonsyndromic hearing loss from Croatia. About 44.8% of our patients presented with mutation in the GJB2 gene. We identified seven sequence variations. Six of them had previously been reported as disease related (35delG, W24X, V371, L90P, 313de114, and IVS1 + 1G > A), and we report here for the first time one novel variant, –24A > C. We detected the greatest frequency of 35delG allele compared to the other alleles (35.3%). Allelic frequencies of other common mutations accounted for 2.6-0.9% of analyzed chromosomes. Neither GJB6 deletion nor copy number changes in the GJB2, GJB3, GJB6, and WFS1 genes were found. The 35delG/35delG genotype was associated with severe to profound hearing loss in 94% of 35delG homozygotes. High mutation rate (44%) indicates that testing of the GJB2 gene will clarify the genetic cause in almost half of the cases of recessive nonsyndromic hearing loss in Croatia.
机译：这项研究的目的是确定(1)突变的频率和类型编码GJB2基因区域(测序),(2)剪切位点突变频率IVS1 + 1 g >GJB2基因(多路结扎-依赖探针扩增分析),(3)可能的复制数量的变化GJB2、GJB3 GJB6, WFS1基因(多路复用ligation-dependent调查放大分析),和(4)的频率德尔(GJB6-D13S1830) GJB6基因在58个nonsyndromic患者听力损失无关从克罗地亚。面对GJB2基因突变。确认了7个序列的变化。以前报道相关的疾病吗(35delG, W24X, V371 L90P、313de114 and IVS1 +1 g >),我们首次报告在这里一个新颖的变体,-24 > c。我们发现了最大的35 delg等位基因的频率比另一个等位基因(35.3%)。其他常见突变占2.6 - -0.9%染色体分析。拷贝数的变化GJB2、GJB3 GJB6,WFS1基因被发现。与深刻的听力严重吗94%的35 delg该损失。率(44%)表明GJB2的测试几乎在基因将澄清的遗传原因隐性nonsyndromic病例的一半听力损失在克罗地亚。

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