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Article

A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia.

Clinical genetics - 1 Jun 2009

Sirmaci A, Oztürkmen-Akay H, Erbek S, Incesulu A, Duman D, Taşir-Yilmaz S, Ozdağ H, Tekin M

Abstract excerpt

Using Affymetrix 10K arrays, we searched for regions of homozygosity in 51 Turkish families including at least three members with either congenital or prelingual autosomal recessive non-syndromic sensorineural hearing loss (ARNSSNHL), and identified four families whose deafness mapped to the DFNB6 locus on 3p21 containing the TMIE gene. Mutation analysis revealed the p.R84W mutation in all four families....

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Source

Identifiers

PMID: 19438934
DOI: 10.1111/j.1399-0004.2009.01183.x

Genes

TMIE
GJB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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