Low incidence ofGIPC3variants among the prelingual hearing impaired from southern India

Kalaimathi Murugesan; Subathra Mahalingam; Jeffrey Justin Margret; Selvakumari Mathiyalagan; Chandru Jayasankaran; Sharanya Narasimhan; Paridhy Vanniya S.; Srisailapathy C. R. Srikumari

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Low incidence ofGIPC3variants among the prelingual hearing impaired from southern India

机译：从南部南部障碍的预期听证障碍中的低接触率低

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The broad spectrum of causal variants in the newly discoveredGIPC3gene is well reflected in worldwide studies. Except for one missense variant, none of the reported variants had reoccurred, thus reflecting the intragenic heterogeneity. We screened all the six coding exons ofGIPC3gene in a large cohort of 177 unrelated prelingual hearing impaired after excluding the commonGJB2,GJB6nuclear and A1555G mitochondrial variants. We observed a single homozygous pathogenic frameshift variant c.685dupG (p.A229GfsX10), accounting for a low incidence (0.56%) ofGIPC3variants in south Indian population.GIPC3being a rare gene as a causative for deafness, the allelic spectra perhaps became much more diverse from population to population, thus resulting in a minimal recurrence of the variants in our study, that were reported by authors from other parts of the globe.

机译：新发现的IPC3基因中广泛的因果变异在世界范围内的研究中得到了很好的反映。除了一个错义变异外，所有报告的变异均未再次发生，因此反映了基因内异质性。在排除常见的GJB2、GJB6核和A1555G线粒体变异体后，我们在177名无关的语前听力障碍患者的大队列中筛查了全部六个编码基因外显子。我们观察到一个纯合致病性移码变异体c.685dupG（p.A229GfsX10），在南印度人群中占低发病率（0.56%）。GIPC3是一种罕见的导致耳聋的基因，不同人群的等位基因谱可能变得更加多样，从而导致我们研究中变异的最小复发，这是来自全球其他地区的作者报告的。

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来源
《Journal of genetics》 |2020年第1期|共7页
作者
Kalaimathi Murugesan; Subathra Mahalingam; Jeffrey Justin Margret; Selvakumari Mathiyalagan; Chandru Jayasankaran; Sharanya Narasimhan; Paridhy Vanniya S.; Srisailapathy C. R. Srikumari;
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Univ Madras Dr ALM PG Inst Basic Med Sci Chennai 600113 Tamil Nadu India;

Univ Madras Dr ALM PG Inst Basic Med Sci Chennai 600113 Tamil Nadu India;

Univ Madras Dr ALM PG Inst Basic Med Sci Chennai 600113 Tamil Nadu India;

Univ Madras Dr ALM PG Inst Basic Med Sci Chennai 600113 Tamil Nadu India;

Univ Madras Dr ALM PG Inst Basic Med Sci Chennai 600113 Tamil Nadu India;

Univ Madras Dr ALM PG Inst Basic Med Sci Chennai 600113 Tamil Nadu India;

Univ Madras Dr ALM PG Inst Basic Med Sci Chennai 600113 Tamil Nadu India;

Univ Madras Dr ALM PG Inst Basic Med Sci Chennai 600113 Tamil Nadu India;

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正文语种 eng
中图分类遗传学;
关键词
prelingual deafness; c; 685dupG; consanguinity; south India; GIPC3gene;

机译：prelingual耳聋;c;685dupg;血缘关系;南印度;gipc3gene;

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2. Myosin-7A Mutation Screening in Patients with Prelingual Non-Syndromic Hearing Impairment [J] . HU Peng, XIE Ding-hua, XIAO Zi-an, 中华耳科学杂志（英文版） . 2006,第002期
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Low incidence ofGIPC3variants among the prelingual hearing impaired from southern India

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