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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome
American Journal of Human Genetics, Volume 80, No. 2, Year 2007
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Description
Thrombocytopenia-absent radius (TAR) syndrome is characterized by hypomegakaryocytic thrombocytopenia and bilateral radial aplasia in the presence of both thumbs. Other frequent associations are congenital heart disease and a high incidence of cow's milk intolerance. Evidence for autosomal recessive inheritance comes from families with several affected individuals born to unaffected parents, but several other observations argue for a more complex pattern of inheritance. In this study, we describe a common interstitial microdeletion of 200 kb on chromosome 1q21.1 in all 30 investigated patients with TAR syndrome, detected by microarray-based comparative genomic hybridization. Analysis of the parents revealed that this deletion occurred de novo in 25% of affected individuals. Intriguingly, inheritance of the deletion along the maternal line as well as the paternal line was observed. The absence of this deletion in a cohort of control individuals argues for a specific role played by the microdeletion in the pathogenesis of TAR syndrome. We hypothesize that TAR syndrome is associated with a deletion on chromosome 1q21.1 but that the phenotype develops only in the presence of an additional as-yet-unknown modifier (mTAR). © 2006 by The American Society of Human Genetics. All rights reserved.
Authors & Co-Authors
Klopocki, Eva
Germany, Berlin
Charité – Universitätsmedizin Berlin
Schulze, Harald
Germany, Berlin
Charité – Universitätsmedizin Berlin
Strauß, Gabriele
Germany, Berlin
Charité – Universitätsmedizin Berlin
Ott, Claus Eric
Germany, Berlin
Charité – Universitätsmedizin Berlin
Hall, Judith G.
Canada, Vancouver
The University of British Columbia
Trotier, Fabienne
Germany, Berlin
Charité – Universitätsmedizin Berlin
Fleischhauer, Silke
Germany, Berlin
Charité – Universitätsmedizin Berlin
Greenhalgh, Lynn
United Kingdom, Liverpool
Alder Hey Children's Hospital
Newbury-Ecob, Ruth A.
United Kingdom, Bristol
Bristol Royal Hospital for Children
Neumann, Luitgard M.
Germany, Berlin
Charité – Universitätsmedizin Berlin
Habenicht, Rolf
Germany, Hamburg
Kinderkrankenhaus Wilhelmstift
Koenig, Rainer König
Germany, Frankfurt am Main
Universitätsklinikum Frankfurt
Seemanova, Eva
Czech Republic, Prague
Charles University
Megarbane, Andre
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Ropers, Hans Hilger
Germany, Berlin
Max Planck Institute for Molecular Genetics
Ullmann, Reinhard
Germany, Berlin
Max Planck Institute for Molecular Genetics
Horn, Denise
Germany, Berlin
Charité – Universitätsmedizin Berlin
Mundlos, Stefan
Germany, Berlin
Charité – Universitätsmedizin Berlin
Germany, Berlin
Max Planck Institute for Molecular Genetics
Statistics
Citations: 309
Authors: 18
Affiliations: 9
Identifiers
Doi:
10.1086/510919
ISSN:
00029297
Research Areas
Genetics And Genomics
Maternal And Child Health
Noncommunicable Diseases
Study Design
Cohort Study