Department of Genetics, Dr. ALM Post Graduate Institute of Basic Medical Sciences, University of Madras, Taramani Campus, Chennai, 600 113, India.
PG and Research Department of Biotechnology, Women's Christian College, Chennai, India.
Eur Arch Otorhinolaryngol. 2020 Nov;277(11):3021-3035. doi: 10.1007/s00405-020-06026-3. Epub 2020 May 16.
Assortative mating (AM) or preferential mating is known to influence the genetic architecture of the hearing-impaired (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.
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.
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).
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.
连锁交配（AM）或优先交配已知会影响听力受损（HI）人群的遗传结构。现在认为 AM 是一种普遍现象，个体根据定量、定性和行为表型来寻找伴侣。然而，在实时测试的 HI 中，AM 的分子遗传动态仅限于 DFNB1 基因座。
对来自 82 个印度南部家庭（52 名聋人聋人结婚和 30 名聋人正常结婚）的 113 名 HI 伴侣进行了 SLC26A4 基因（DFNB4）变异的筛选，这些伴侣先前已排除 DFNB1（GJB2/6）病因。
确定了七种致病性变体谱，即 p.S90L、p.V239D、p.V359E、p.Gly389Trpfs*79（新）、p.T410M、p.N457K 和 p.K715N。本研究中鉴定的 SLC26A4 变体的致病等位基因频率为 3.98%（9/226）。
我们建议对突变热点进行初步筛选，以便在未来的研究中快速检测其在印度南部 HI 人群中的复发情况。这将是第一项全面说明 SLC26A4 基因突变发生率和此类 HI 队列中 DFNB4 变异实时动态的研究。
