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Article

Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree.

Human mutation - 1 Jan 2005

Meyer Christian G, Gasmelseed Nagla M, Mergani Adil, Magzoub Mubarak M A, Muntau Birgit, Thye Thorsten, Horstmann Rolf D

Abstract excerpt

Mutations of the transmembrane channel-like gene 1 (TMC1) have been shown to cause autosomal dominant and recessive forms of congenital nonsyndromic deafness linked to the loci DFNA36 and DFNB7/B11, respectively. In a Sudanese pedigree affected by an apparently recessive form of nonsyndromic deafness, we performed a linkage analysis using markers covering the deafness loci DFNB1 - DFNB30. A two-point LOD score of...

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Identifiers

PMID: 15605408
DOI: 10.1002/humu.9302

Genes

TMC1

Variants

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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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