Abstract
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.
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Acknowledgements
We thank all the participants in our study for their co-operation. This study was supported by ICMR, UGC-UPE Phase II, UGC-SAP, DST-FIST II, DBT multicentric project (BT/PR26850/MED/12/80/2017) and UGC Research Scientist Scheme (F.8-17(SC)/90(SA-II)) grants sanctioned to CRS. We are grateful to Dr N. P. Karthikeyan (ENT Surgeon, DOAST Hearing Care Center, Anna Nagar, Chennai) for conducting clinical investigations. Fellowship supports: MK, ICMR FA, URF; MS, DBT RA; JMJ, CSIR & DBT SRF; MSK and PVS, ICMR SRF; JC and NS, UGC BSR SRF.
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KALAIMATHI, M., SUBATHRA, M., JEFFREY, J.M. et al. Low incidence of GIPC3 variants among the prelingual hearing impaired from southern India. J Genet 99, 74 (2020). https://doi.org/10.1007/s12041-020-01234-6
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DOI: https://doi.org/10.1007/s12041-020-01234-6