A 250-kb Microdeletion Identified in Chromosome 16 Is Associated With Non-Syndromic Sensorineural Hearing Loss in a South Indian Consanguineous Family.
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Abstract
Background and objectives: Hereditary hearing loss is the most common genetic disorder in children. Nearly 120 genes associated with auditory impairment have been identified. Although the disease is clinically and genetically complex, the chances of identifying deafness-causing loci increase when studying consanguineous families. Materials and.
Methods: Whole-exome sequencing was performed to identify genetic variants underlying sensorineural hearing loss in affected individuals from a family with third-degree consanguineous practices.
Results: A homozygous deletion of 250.285 kb was identified in the 16p12.2 region encompassing three genes, METTL9, IGSF6, and OTOA, and a partial deletion of the NPIPB4 gene co-segregated within the family.
Conclusions: This study highlighted the genetic heterogeneity of hearing loss in consanguineous families. Future research should focus on the OTOA mutational spectrum in South Indian populations with hearing loss.
期刊介绍：
Journal of Audiology and Otology (JAO) (formerly known as Korean Journal of Audiology) aims to publish the most advanced findings for all aspects of the auditory and vestibular system and diseases of the ear using state-of-the-art techniques and analyses. The journal covers recent trends related to the topics of audiology, otology, and neurotology conducted by professionals, with the goal of providing better possible treatment to people of all ages, from infants to the elderly, who suffer from auditory and/or vestibular disorders and thus, improving their quality of life. This journal encourages the submission of review papers about current professional issues, research papers presenting a scientific base and clinical application, and case papers with unique reports or clinical trials. We also invite letters to the editor and papers related to the manufacture and distribution of medical devices. This journal provides integrated views from otologists, audiologists, and other healthcare practitioners, offering readers high quality scientific and clinical information. This peer-reviewed and open access journal has been the official journal of the Korean Audiological Society since 1997 and of both the Korean Audiological Society and the Korean Otological Society since 2017. It is published in English four times a year in January, April, July, and October.
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