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Volume 20 No 22 (2022)
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Novel splice-site variation in SLC26A4 causes autosomal recessive nonsyndromic hearing loss in a consanguineous Indian family
Mangesh N. Deokar and Nitu Singh
DOI: 10.48047/NQ.2022.20.22.NQ10257
Abstract
Variants in the SLC26A4 gene are correlated with autosomal recessive nonsyndromic hearing loss. This study aimed to identify the genetic causes in a in a consanguineous Indian family and cause pathogenicity of the detected variants.
Keywords
SLC26A4 gene, c.1614+5G>A, ARNSHL.
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