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          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents



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ID: 334122.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius
Authors:Klopocki, Eva; Schulze, Harald; Strauß, Gabriele; Ott, Claus-Eric; Hall, Judith; Trotier, Fabienne; Fleischhauer, Silke; Greenhalgh, Lynn; Newbury-Ecob, Ruth A.; Neumann, Luitgard M.; Habenicht, Rolf; König, Rainer; Seemanova, Eva; Megarbane, André; Ropers, Hans-Hilger; Ullmann, Reinhard; Mundlos, Stefan
Language:English
Date of Publication (YYYY-MM-DD):2007-02-01
Title of Journal:American Journal of Human Genetics : AJHG / American Society of Human Genetics
Journal Abbrev.:Am. J. Hum. Genet.
Volume:80
Issue / Number:2
Start Page:232
End Page:240
Copyright:© 2006 by The American Society of Human Genetics. All rights reserved.
Review Status:not specified
Audience:Experts Only
Abstract / 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).
Comment of the Author/Creator:Address for correspondence and reprints: Dr. Stefan Mundlos, Institut für Medizinische Genetik, Charité Universitätsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany. E-mail: stefan.mundlos@charite.de
External Publication Status:published
Document Type:Article
Version Comment:Automatic journal name synchronization
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:1.Institut für Medizinische Genetik,
Klinik für Allgemeine Pädiatrie and Institut für Humangenetik, Charité Universitätsmedizin Berlin, Germany; 2.University of British Columbia, Vancouver,
Clinical Genetics, Royal Liverpool Children’s Hospital, Liverpool, United Kingdom;
3.Clinical Genetics, Bristol Royal Hospital for Children, Bristol, United Kingdom;
4.Kinderkrankenhaus Wilhelmstift, Hamburg, Germany;
5.Institut für Humangenetik, Universitätsklinikum Frankfurt, Frankfurt, Germany;
6.Institute for Biology and Medical Genetics, Charles University, Prague, Czech Republic;
7. Service de Génétique Médicale, Université Saint-Joseph, Beirut, Lebanon.
Identifiers:ISSN:0002-9297
URL:http://www.pubmedcentral.nih.gov/articlerender.fcg...
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