Absence of KCNQ4 mutation in Bengali families with ADNSHL originated from West Bengal, India

Adhikary, Bidisha; Bankura, Biswabandhu; Biswas, Soumali; Paul, Silpita; Das, Madhusudan

doi:10.1016/j.ijporl.2017.06.004

Cited by 2 publications

(1 citation statement)

References 24 publications

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“…In addition to the above mutations, other variants including M1V, E147K, R184Q, R75Q, V84L, I35S, R32L, S19G, K15T, I20T, V37I, E42D, K105fsX109, E129fsX211, L105GfsX5, E120del, T55T, T86M, A88A, M195I, P225P, R75W, R143W, W172R, R184P, M195I, D159Y, F106F, D50N, Q80X, V95M, E114L, E147L, N206H, I111T, G12VfsX2, delE120 and V43M have also been found in GJB2, which have been involved in developing NSHL (►Table 1). 19,26,[33][34][35][36][37][38][39][40][41][42][43][44][45][46][47] Ten chromosomal or nucleotide mutations including 35delG, 51del12insA, 35insG, IVS1 þ 1G > A, 84T > C, 1067G > T, 1277T > C, 1152G > A, 167delT, 235delC have been reported in GJB2-associated NSHL cases. Of these, 35delG is the most frequent mutation in all the studied Indian populations with NSHL.…”

Section: Mutational Observation In Connexin Genesmentioning

confidence: 99%

Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations

2021

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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.

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