Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan.

doi:10.1038/s41598-026-48515-1

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Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan.

Scientific reports - 5 May 2026

Ramzan Memoona, Idrees Hafiza, Khan Hina, Faridi Rabia, Munir Zunaira, Muzaffar Fariha, Shabbir Kanwal, Imtiaz Ayesha, Noman Muhammad, Ahmed Alina, Bashir Rasheeda, Khan Niaz Muhammad, Maqsood Azra, Mujtaba Ghulam, Salman Midhat, Bukhari Ihtisham, Munir Hafiz Muhammad Waqas, Tariq Huma, Waqas Muhammad, Iqbal Muhammad N, Wohler Elizabeth, Witmer P Dane, Sobreira Nara, Morell Robert J, Seo Go Hun, Inagaki Sayaka, Friedman Thomas B, Naz Sadaf

Abstract excerpt

Variants of at least twenty-seven human genes are associated with stable or progressive nonsyndromic moderate to severe hearing loss inherited as a recessive condition. We ascertained 54 consanguineous families, predominantly from the Punjab province in Pakistan, with multiple individuals affected by moderate to severe or progressively profound hearing loss. After Sanger sequencing identified 4 families with GJB2...

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Identifiers

PMID: 42086625
DOI: 10.1038/s41598-026-48515-1
PMCID: PMC13333964

Genes

GJB2
CDH23
HGF
LHFPL5
MYO15A
OTOF
PCDH15
SLC26A4

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

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