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Article

Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1.

Audiology & neuro-otology - 1 Jan 2011

de Heer Anne-Martine R, Collin Rob W J, Huygen Patrick L M, Schraders Margit, Oostrik Jaap, Rouwette Myrthe, Kunst Henricus P M, Kremer Hannie, Cremers Cor W R J

Abstract excerpt

In a Dutch family with autosomal recessive hearing loss, genome-wide single-nucleotide polymorphism analysis mapped the genetic defect to the DFNB7/11 locus. A novel homozygous A-to-G change in the TMC1 gene was detected near the splice donor site of intron 19 (c.1763+3A→G) segregating with the hearing loss in this family. One of the 6 transmembrane domains and the actual TMC channel domain are predicted to be...

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Source

Identifiers

PMID: 21252500
DOI: 10.1159/000313282

Genes

TMC1

Provenance

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