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Article

SLC26A4 mutations in patients with moderate to severe hearing loss.

Biochemical genetics - 1 Aug 2013

Khan Muhammad Riaz, Bashir Rasheeda, Naz Sadaf

Abstract excerpt

Mutations in SLC26A4 cause either syndromic or nonsyndromic hearing loss. We identified a link between hearing loss and DFNB4 in 3 of the 50 families participating in this study. Sequencing analysis revealed two SLC26A4 mutations, p.V239D and p.S57X, in affected members of the 3 families. These mutations have been previously reported in deaf individuals from the subcontinent, all of whom manifested profound...

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Identifiers

PMID: 23504402
DOI: 10.1007/s10528-013-9582-0
PMCID: PMC3714363

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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