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Article

Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.

Clinical genetics - 1 Jul 2012

Lee K, Khan S, Islam A, Ansar M, Andrade P B, Kim S, Santos-Cortez R L P, Ahmad W, Leal S M

Abstract excerpt

Mutations in the TMPRSS3 gene are known to cause autosomal recessive non-syndromic hearing impairment (ARNSHI). After undergoing a genome scan, 10 consanguineous Pakistani families with ARNSHI were found to have significant or suggestive evidence of linkage to the TMPRSS3 region. In order to elucidate if the TMPRSS3 gene is responsible for ARNSHI in these families, the gene was sequenced using DNA samples from...

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Share to Chromosomes, Human, Pair 21
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ear, Inner

Share to Genes, Recessive

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Source

Open in PubMed Open full text

Identifiers

PMID: 21534946
DOI: 10.1111/j.1399-0004.2011.01695.x
PMCID: PMC3374056

Genes

TMPRSS3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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