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Title: Duplication of the TGFBR1 gene causes features of Loeys-Dietz Syndrome
Authors: Breckpot, Jeroen
Budts, Werner
de Zegher, Francis
Vermeesch, Joris
Devriendt, Koenraad # ×
Issue Date: Nov-2010
Publisher: Elsevier
Series Title: European Journal of Medical Genetics vol:53 issue:6 pages:408-410
Abstract: Loeys-Dietz syndrome (LDS; OMIM:609192) is an autosomal dominant disorder characterized by hypertelorism, bifid uvula or cleft palate, and arterial tortuosity with widespread vascular aneurysms and a high risk of aortic dissection at an early age. LDS results from mutations in the transforming growth factor beta-receptor I and II (TGFBR1 and TGFBR2) genes, altering the transmission of the subcellular TGF-beta signal, mediated by increased activation of Smad2. We report on a 17-year-old boy with short stature, pubertas tarda, a bifid uvula, camptodactyly and facial dysmorphic features, suggestive of LDS. Mutation analysis of TGFBR1 and TGFBR2 was normal. By means of molecular karyotyping two previously unreported chromosomal imbalances were detected: a 120 kb deletion on chromosome 22q13.31q13.32, inherited from an unaffected parent, and a de novo 14.6 Mb duplication on chromosome 9q22.32q31.3, comprising TGFBR1. We hypothesize that copy number gain of TGFBR1 contributes to the phenotype.
URI: 
ISSN: 1769-7212
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Section Newborn (-)
Laboratory for Genetics of Human Development
Cardiology
× corresponding author
# (joint) last author

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