Publication
Title
Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment
Author
Abstract
Two different missense mutations, p.D572N and p.D572H, affecting the same nucleotide and codon of the TMC1 gene were earlier reported to cause autosomal dominant hearing impairment at locus DFNA36 in two North American families. No other dominant mutations of human TMC1 have been published. We ascertained a third North American family segregating autosomal dominant nonsyndromic hearing impairment at the DFNA36 locus. We identified the p.D572N mutation of TMC1 co-segregating with hearing loss in our study family. A comparative haplotype analysis of linked single nucleotide polymorphisms and short tandem repeats in the two families segregating p.D572N was not consistent with a founder effect. These findings can be explained in two ways. Either nucleotide 1714 is a hot spot for mutations or, alternatively, missense mutations at this site confer a specific pathogenic gain-of-function or dominant-negative effect.
Language
English
Source (journal)
Journal of human genetics. - New York, N.Y.
Publication
New York, N.Y. : 2009
ISSN
1434-5161
Volume/pages
54:3(2009), p. 188-190
ISI
000265356100009
Full text (Publisher's DOI)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
E-info
Web of Science
Record
Identification
Creation 22.06.2009
Last edited 16.09.2017
To cite this reference