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  Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius

Klopocki, E., Schulze, H., Strauß, G., Ott, C.-E., Hall, J., Trotier, F., et al. (2007). Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius. American Journal of Human Genetics: AJHG / American Society of Human Genetics, 80(2), 232-240. Retrieved from http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=17236129#id2600547.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-824B-4 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-824C-2
Genre: Journal Article
Alternative Title : Am. J. Hum. Genet.

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Klopocki, Eva1, Author              
Schulze, Harald, Author
Strauß, Gabriele, Author
Ott, Claus-Eric, Author
Hall, Judith, Author
Trotier, Fabienne1, Author              
Fleischhauer, Silke, Author
Greenhalgh, Lynn, Author
Newbury-Ecob, Ruth A., Author
Neumann, Luitgard M., Author
Habenicht, Rolf, Author
König, Rainer, Author
Seemanova, Eva, Author
Megarbane, André, Author
Ropers, Hans-Hilger2, Author              
Ullmann, Reinhard3, Author              
Mundlos, Stefan1, Author              
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
3Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              

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 Abstract: 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).

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Language(s): eng - English
 Dates: 2007-02-01
 Publication Status: Published in print
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Title: American Journal of Human Genetics : AJHG / American Society of Human Genetics
  Alternative Title : Am. J. Hum. Genet.
Source Genre: Journal
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Pages: - Volume / Issue: 80 (2) Sequence Number: - Start / End Page: 232 - 240 Identifier: ISSN: 0002-9297