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Article

A p.C343S missense mutation in PJVK causes progressive hearing loss.

Gene - 1 Aug 2012

Mujtaba Ghulam, Bukhari Ihtisham, Fatima Amara, Naz Sadaf

Abstract excerpt

Mutations in PJVK, encoding Pejvakin, cause autosomal recessive nonsyndromic hearing loss in humans at the DFNB59 locus on chromosome 2q31.2. Pejvakin is involved in generating auditory and neural signals in the inner ear. We have identified a consanguineous Pakistani family segregating sensorineural progressive hearing loss as a recessive trait, consistent with linkage to DFNB59. We sequenced PJVK and identified...

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Share to Consanguinity
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Linkage

Share to Hearing Loss, Sensorineural

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Source

Open in PubMed Open full text

Identifiers

PMID: 22617256
DOI: 10.1016/j.gene.2012.05.013
PMCID: PMC3534776

Genes

PJVK

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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