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J Pediatr Genet 2022; 11(01): 005-014
DOI: 10.1055/s-0041-1740532
Review Article

Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations

Manisha Ray
1   Department of Pathology and Lab Medicine, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India
,
Saurav Sarkar
2   Department of Otolaryngology, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India
,
Mukund Namdev Sable 
1   Department of Pathology and Lab Medicine, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India
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Abstract

Congenital nonsyndromic hearing loss (NSHL) has been considered as one of the most prevalent chronic disorder in children. It affects the physical and mental conditions of a large children population worldwide. Because of the genetic heterogeneity, the identification of target gene is very challenging. However, gap junction β-2 (GJB2) is taken as the key gene for hearing loss, as its involvement has been reported frequently in NSHL cases. This study aimed to identify the association of GJB2 mutants in different Indian populations based on published studies in Indian population. This will provide clear genetic fundamental of NSHL in Indian biogeography, which would be helpful in the diagnosis process.

Keywords

nonsyndromic hearing loss - genetics - GJB2 - India - mutation


Publication History

Received: 24 September 2021

Accepted: 12 November 2021

Article published online:
14 December 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
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