Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus

W Chen; K Kahrizi; N C Meyer; Y Riazalhosseini; G Van Camp; H Najmabadi; R J H Smith

doi:10.1136/jmg.2005.032615

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Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus

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Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus

W Chen, K Kahrizi, N C Meyer, Y Riazalhosseini, G Van Camp, H Najmabadi and R J H Smith

Journal of medical genetics, Vol.42(10), pp.e61-e61

10/2005

DOI: 10.1136/jmg.2005.032615

PMCID: PMC1735925

PMID: 16033917

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Abstract

Background: Allele variants of COL11A2, encoding collagen type XI α2, cause autosomal dominant non-syndromic hearing loss (ARNSHL) at the DFNA13 locus (MIM 601868) and various syndromes that include a deafness phenotype. Objective: To describe a genome-wide scan carried out on a consanguineous Iranian family segregating ARNSHL. Results: Genotyping data identified a novel locus for ARNSHL on chromosome 6p21.3, which was designated DFNB53. Homozygosity for the P621T mutation of COL11A2 was present in all deaf persons in this family; this same variation was absent in 269 Iranian controls. Sequence comparison of collagen type XI α1 and α2 peptides across species shows that the replaced proline is an evolutionarily conserved amino acid. Conclusions: The P621T mutation of COL11A2 affects the Y position of the canonical -Gly-X-Y- repeat in collagens. It lies near the amino-terminus of the triple helical region and causes ARNSHL. This finding suggests that mutation type and location are critical determinants in defining the phenotype of COL11A2 associated diseases.

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Title: Subtitle: Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus
Creators: W Chen - Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
K Kahrizi - Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
N C Meyer - Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
Y Riazalhosseini - Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
G Van Camp - Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
H Najmabadi - Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
R J H Smith - Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
Resource Type: Journal article
Publication Details: Journal of medical genetics, Vol.42(10), pp.e61-e61
DOI: 10.1136/jmg.2005.032615
PMID: 16033917
PMCID: PMC1735925
NLM abbreviation: J Med Genet
ISSN: 0022-2593
eISSN: 1468-6244
Language: English
Date published: 10/2005
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
Record Identifier: 9984007197202771

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