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Article

Caste-based genetic diagnosis: evidence from a pathogenic SLC26A4 variant implicated in hereditary hearing loss.

Journal of tropical pediatrics - 2 Jan 2026

Bhinder Munir Ahmad, Sadia Haleema, Rauff Bisma, Hussain Zawar, Qasim Muhammad, Rehman Rahat Abdul, Tahir Romeeza, Choudhery Mahmood S, Waryah Ali Muhammad, Zahoor Muhammad Yasir

Abstract excerpt

Variants in the SLC26A4 gene are the most common cause of hereditary hearing loss in Pakistan, and the second most common cause worldwide. Advances in genetic diagnosis can make it more time-efficient, cost-effective, and accessible to clinicians and patients. The study aimed to screen 260 consanguineous Pakistani families with hereditary hearing loss for the DFNB4/PDS locus and to detect pathogenic SLC26A4...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41481360
DOI: 10.1093/tropej/fmaf055

Genes

SLC26A4
GJB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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