A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1

Melissa Thys; Kris Van Den Bogaert; Vassiliki Iliadou; Kathleen Vanderstraeten; Nele Dieltjens; Isabelle Schrauwen; Wenjie Chen; Nikolaos Eleftheriades; Maria Grigoriadou; Robert Jan Pauw; Cor R W J Cremers; Richard J H Smith; Michael B Petersen; Guy Van Camp

doi:10.1038/sj.ejhg.5201761

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A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1

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A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1

Melissa Thys, Kris Van Den Bogaert, Vassiliki Iliadou, Kathleen Vanderstraeten, Nele Dieltjens, Isabelle Schrauwen, Wenjie Chen, Nikolaos Eleftheriades, Maria Grigoriadou, Robert Jan Pauw, …

European journal of human genetics : EJHG, Vol.15(3), pp.362-368

03/2007

DOI: 10.1038/sj.ejhg.5201761

PMID: 17213839

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Abstract

Otosclerosis is a common form of hearing impairment among white adults with a prevalence of 0.3-0.4%. It is caused by abnormal bone homeostasis of the otic capsule that compromises free motion of the stapes in the oval window. Otosclerosis is in most patients a multifactorial disease, caused by both genetic and environmental factors. In some cases, the disease is inherited as a monogenic autosomal dominant trait, sometimes with reduced penetrance. However, families large enough for genetic linkage studies are extremely rare. To date, five loci (OTSC1-5) have been reported, but none of the responsible genes have been cloned yet. An additional locus, OTSC6, has been reported to the HUGO nomenclature committee but the relevant linkage study has not been published. In this study, a genome-wide linkage study was performed in a large Greek pedigree segregating autosomal dominant otosclerosis. A seventh locus, OTSC7, was localized on chromosome 6q13-16.1 with a multipoint LOD score of 7.5 in the 13.47 cM region defined by markers D6S1036 (centromeric) and D6S300 (telomeric). Linkage analysis of this new locus in 13 smaller Belgian and Dutch families has identified one family from The Netherlands in which allele segregation suggests linkage to this region. The overlap between the critical regions of these two families is a 1.06 Mb interval between the genetic markers D6S1036 (centromeric) and D6S406 (telomeric) on chromosome 6q13.

Pedigree

Humans

Female

Male

Chromosome Mapping

Otosclerosis - genetics

Chromosomes, Human, Pair 6 - genetics

Details

Title: Subtitle: A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1
Creators: Melissa Thys - Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, Antwerp, Belgium
Kris Van Den Bogaert
Vassiliki Iliadou
Kathleen Vanderstraeten
Nele Dieltjens
Isabelle Schrauwen
Wenjie Chen
Nikolaos Eleftheriades
Maria Grigoriadou
Robert Jan Pauw
Cor R W J Cremers
Richard J H Smith
Michael B Petersen
Guy Van Camp
Resource Type: Journal article
Publication Details: European journal of human genetics : EJHG, Vol.15(3), pp.362-368
DOI: 10.1038/sj.ejhg.5201761
PMID: 17213839
NLM abbreviation: Eur J Hum Genet
ISSN: 1018-4813
eISSN: 1476-5438
Publisher: England
Grant note: R01 DC05218 / NIDCD NIH HHS
Language: English
Date published: 03/2007
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: 9984006305102771

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