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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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, <i>METTL9</i>, <i>IGSF6</i>, and <i>OTOA</i>, and a partial deletion of the <i>NPIPB4</i> 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 <i>OTOA</i> mutational spectrum in South Indian populations with hearing loss.
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, <i>METTL9</i>, <i>IGSF6</i>, and <i>OTOA</i>, and a partial deletion of the <i>NPIPB4</i> 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 <i>OTOA</i> mutational spectrum in South Indian populations with hearing loss.