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Article

TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery - 1 May 2016

Battelino Saba, Klancar Gasper, Kovac Jernej, Battelino Tadej, Trebusak Podkrajsek Katarina

Abstract excerpt

Nonsyndromic genetic deafness is highly heterogeneous in its clinical presentation, pattern of inheritance and underlying genetic causes. Mutations in TMPRSS3 gene encoding transmembrane serine protease account for <1 % of autosomal recessive nonsyndromic hearing loss (ARNSHL) in Caucasians. Targeted next generation sequencing in the index family with profound deaf parents and a son, and Sanger sequencing of...

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Identifiers

PMID: 26036852
DOI: 10.1007/s00405-015-3671-0

Genes

TMPRSS3
GJB2
GJB6

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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TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.PMID 26036852Read ↗

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