Adhikary Bidisha, Bankura Biswabandhu, Biswas Subhradev, Paul Silpita, Das Madhusudan
Department of Zoology, University of Calcutta, 35 Ballygunge Circular Road, Kolkata 700019, West Bengal, India.
Department of E.N.T, Institute of Post Graduate Medical Education & Research, 244 A J C Bose Road, Kolkata 700020, West Bengal, India.
Int J Pediatr Otorhinolaryngol. 2017 Sep;100:35-38. doi: 10.1016/j.ijporl.2017.06.004. Epub 2017 Jun 15.
Autosomal Dominant Non-Syndromic Hearing Loss (ADNSHL) is extremely heterogeneous in nature. More than 60 loci with 30 different genes have been identified linked to ADNSHL. Mutation in KCNQ4 is considered as one of the most common causative factor responsible for ADNSHL. No study focused on the genetic alteration of KCNQ4 gene among hearing loss patients in India. The present study for the first time was carried out to determine the mutation spectrum of KCNQ4 gene in ADNSHL patients of West Bengal state, India.
Twenty nine individuals from 10 independent ADNSHL family (with two or more generation affected) were studied both clinically and genetically. Most of the patients showed moderate progressive sensorineural hearing loss. Mutation analysis was conducted for KCNQ4 gene using polymerase chain reaction followed by direct sequencing.
Neither any reported nor a novel pathogenic mutation in KCNQ4was detected in our studied group, in contrast to the findings among East Asians.
The result of the present study suggests that mutations in KCNQ4 gene are unlikely to be a major causative factor of ADNSHL in our studied patients from West Bengal, India, pointing to other genes might be responsible for ADNSHL in our studied patients.
常染色体显性非综合征性听力损失（ADNSHL）本质上具有高度异质性。已确定60多个位点与30个不同基因与ADNSHL相关。KCNQ4突变被认为是导致ADNSHL最常见的致病因素之一。在印度，尚无研究关注听力损失患者中KCNQ4基因的遗传改变。本研究首次对印度西孟加拉邦ADNSHL患者的KCNQ4基因突变谱进行了测定。
对来自10个独立的ADNSHL家系（有两代或两代以上受影响）的29名个体进行了临床和遗传学研究。大多数患者表现为中度进行性感音神经性听力损失。使用聚合酶链反应对KCNQ4基因进行突变分析，随后进行直接测序。
与东亚人的研究结果相反，在我们的研究组中未检测到KCNQ4基因的任何已报道的或新的致病突变。
本研究结果表明，KCNQ4基因突变不太可能是我们所研究的印度西孟加拉邦患者ADNSHL的主要致病因素，这表明其他基因可能是我们所研究患者ADNSHL的病因。
