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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
A new locus for otosclerosis, OTSC8, maps to the pericentromeric region of chromosome 9
Human Genetics, Volume 123, No. 3, Year 2008
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Description
Otosclerosis is a common disorder of the otic capsule resulting in hearing impairment in 0.3-0.4% of the Caucasian population. The aetiology of the disease remains unclear. In most cases, otosclerosis can be considered as a complex disease. In some cases, the disease is inherited as an autosomal dominant trait, sometimes with reduced penetrance. To date, seven autosomal dominant loci have been reported, but none of the disease-causing genes has been identified. In this study, we present the results of a genome-wide linkage analysis in a large Tunisian family segregating autosomal dominant otosclerosis. Linkage analysis localised the responsible gene to chromosome 9p13.1-9q21.11 with a maximal LOD score of 4.13, and this locus was named OTSC8. Using newly generated short tandem repeat polymorphism markers, we mapped this new otosclerosis locus to a 34.16 Mb interval between the markers D9S970 and D9S1799. This region comprises the pericentromeric region on both arms of chromosome 9, a highly complex region containing many duplicated sequences. © Springer-Verlag 2008.
Authors & Co-Authors
Bel Hadj Ali, Insaf
Tunisia, Tunis
Faculté de Médecine de Tunis
Thys, Melissa
Belgium, Antwerpen
Universiteit Antwerpen
Beltaïef, Najeh
Tunisia, Tunis
Faculté de Médecine de Tunis
Tunisia, Tunis
Hôpital la Rabta
Schrauwen, Isabelle
Belgium, Antwerpen
Universiteit Antwerpen
Hilgert, Nele
Belgium, Antwerpen
Universiteit Antwerpen
Vanderstraeten, Kathleen
Belgium, Antwerpen
Universiteit Antwerpen
Dieltjens, Nele
Belgium, Antwerpen
Universiteit Antwerpen
Mnif, Emna
Tunisia, Tunis
Hôpital la Rabta
Hachicha, Slah
Tunisia, Tunis
Hôpital la Rabta
Besbes, Ghazi
Tunisia, Tunis
Hôpital la Rabta
Ben Arab, Saïda
Tunisia, Tunis
Faculté de Médecine de Tunis
van Camp, Guy V.
Belgium, Antwerpen
Universiteit Antwerpen
Statistics
Citations: 58
Authors: 12
Affiliations: 3
Identifiers
Doi:
10.1007/s00439-008-0470-3
ISSN:
03406717
Research Areas
Genetics And Genomics
Study Design
Cross Sectional Study