期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 53, 期 6, 页码 408-410出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2010.08.004
关键词
TGFBR1; Loeys-Dietz syndrome; Array CGH; Bifid uvula; 9q duplication; 22q13 deletion
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 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. (C) 2010 Elsevier Masson SAS. All rights reserved.
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