The broad spectrum of causal variants in the newly discovered GIPC3 gene 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 of GIPC3 gene in a large cohort of 177 unrelated prelingual hearing impaired after excluding the common GJB2 , GJB6 nuclear and A1555G mitochondrial variants. We observed a single homozygous pathogenic frameshift variant c.685dupG (p.A229GfsX10), accounting for a low incidence (0.56%) of GIPC3 variants in south Indian population. GIPC3 being 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.

中文翻译：

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来自印度南部的语前听力障碍者中 GIPC3 变异的发生率较低

新发现的 GIPC3 基因中广泛的因果变异在全球研究中得到了很好的反映。除了一个错义变异，报告的变异都没有再次发生，因此反映了基因内的异质性。在排除常见的 GJB2、GJB6 核和 A1555G 线粒体变异后，我们在 177 名不相关的语前听力受损的大队列中筛选了 GIPC3 基因的所有六个编码外显子。我们观察到单个纯合致病性移码变异 c.685dupG (p.A229GfsX10)，占南印度人群 GIPC3 变异的低发生率 (0.56%)。GIPC3 是一种罕见的导致耳聋的基因，等位基因谱可能在不同人群之间变得更加多样化，从而导致我们研究中变异的复发最小，