Genetic analysis of SLC26A4 gene (pendrin) related deafness among a cohort of assortative mating families from southern
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OTOLOGY
Genetic analysis of SLC26A4 gene (pendrin) related deafness among a cohort of assortative mating families from southern India Jayasankaran Chandru1 · Justin Margret Jeffrey1 · Amritkumar Pavithra1,2 · S. Paridhy Vanniya1 · G. Nandhini Devi1 · Subathra Mahalingam1 · Natarajan Padmavathy Karthikeyen3 · C. R. Srikumari Srisailapathy1 Received: 25 January 2020 / Accepted: 27 April 2020 © Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract Purpose Assortative mating (AM) or preferential mating is known to influence the genetic architecture of the hearingimpaired (HI) population. AM is now seen as a universal phenomenon with individuals seeking partners based on quantitative, qualitative, and behavioral phenotypes. However, the molecular genetic dynamics of AM among the HI tested in real time are limited to the DFNB1 locus. Methods A total of 113 HI partners from 82 South Indian families (52 deaf marrying deaf and 30 deaf marrying normal), previously excluded for DFNB1 (GJB2/6) etiology, were screened for SLC26A4 gene (DFNB4) variants. Results A spectrum of seven pathogenic variants viz., p.S90L, p.V239D, p.V359E, p.Gly389Trpfs*79 (novel), p.T410M, p.N457K and p.K715N were identified. The pathogenic allele frequency of SLC26A4 variants identified in this study was 3.98% (9/226). Conclusion We recommend a preliminary screening of mutational hotspots for future investigations to rapidly test for its recurrence among South Indian HI population. This will be the first study to comprehensively account for the incidence of SLC26A4 gene variants and the real-time dynamics of DFNB4 variants among this type of a HI cohort. Keywords Assortative mating · DFNB4 · Gene dynamics · Hearing impaired · SLC26A4 · South India
Introduction Pendred syndrome (PDS) and DFNB4 encompass the phenotypic spectrum of sensorineural deafness arising from biallelic variants in the SLC26A4 gene, which is the second most common cause of recessive deafness after GJB2 (DFNB1) [1]. Pendred syndrome (OMIM #274600) can be clinically diagnosed with a typical phenotype comprising: Electronic supplementary material The online version of this article (https://doi.org/10.1007/s00405-020-06026-3) contains supplementary material, which is available to authorized users. * C. R. Srikumari Srisailapathy [email protected]; [email protected] 1
Department of Genetics, Dr. ALM Post Graduate Institute of Basic Medical Sciences, University of Madras, Taramani Campus, Chennai 600 113, India
2
Present Address: PG and Research Department of Biotechnology, Women’s Christian College, Chennai, India
3
Hearing Care Center, Anna Nagar, Chennai 600 040, India
(i) prelingual HI; (ii) inner ear abnormalities rarely linked to Mondini dysplasia but often associated with enlargement of the vestibular aqueduct (EVA); (iii) abnormal thyroid gland volume; (iv) elevated serum thyroglobulin; and (v) an abnormal perchlorate discharge test. However, normal thyroid function is a feature of DFNB4 (OMIM #600791) [2]. SLC26A4 ge
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