Fibrillin is the major component of extracellular microfibrils and is widely distributed in connective tissue throughout the body. Mutations in the fibrillin-1 (FBN1) gene, on chromosome 15q21.1, have been found to cause Marfan syndrome, a dominantly inherited disorder characterised by clinically va
Marfan Syndrome Type II: There Is More to Marfan Syndrome than Fibrillin 1
β Scribed by Steven D. Zangwill; Matthew D. Brown; Christine R. Bryke; Joseph R. Cava; Annette D. Segura
- Book ID
- 114854100
- Publisher
- John Wiley and Sons
- Year
- 2006
- Tongue
- English
- Weight
- 131 KB
- Volume
- 1
- Category
- Article
- ISSN
- 1747-079X
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Mutations in the gene encoding fibrillin-1 (FBN1) cause Marfan syndrome (MFS) and other related connective tissue disorders. In this study we performed SSCP to analyze all 65 exons of the FBN1 gene in 76 patients presenting with classical MFS or related phenotypes. We report 7 missense mutations, 3
TGFBR1 and TGFBR2 gene mutations have been associated with Marfan syndrome types 1 and 2, Loeys-Dietz syndrome and isolated familial thoracic aortic aneurysms or dissection. In order to investigate the molecular and clinical spectrum of TGFBR2 mutations we screened the gene in 457 probands suspected