Novel splice-site variation in SLC26A4 causes autosomal recessive nonsyndromic hearing loss in a consanguineous Indian family

Novel splice-site variation in SLC26A4 causes autosomal recessive nonsyndromic hearing loss in a consanguineous Indian family

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.

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Bibliographische Detailangaben
Veröffentlicht in:NeuroQuantology 2022-01, Vol.20 (22), p.2669
Hauptverfasser: Deokar, Mangesh N, Singh, Nitu
Format: Artikel
Sprache:eng
Schlagworte:
Genes
Genomes
Hearing
Hearing loss
Hearing protection
Mutation
Pharmacy
Software
Thyroid gland
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Beschreibung
Zusammenfassung: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.
ISSN:1303-5150
DOI:10.48047/NQ.2022.20.22.NQ10257