We report 9 new mutations in German patients presenting with classical Marfan syndrome. All mutations occur in exons with calcium-binding (cb) epidermal growth factor-like (EGF) domains. Five mutations are missense involving exons 12, 27, 30, 44, and 52 with the resultant substitution of cysteine by
Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes
β Scribed by Brian Hon-Yin Chung; Stephen Tak-Sum Lam; Tony Ming-For Tong; Susanna Yuk-Han Li; Kin-Shing Lun; Daniel Hon-Chuen Chan; Susanna Fung-Shan Fok; June Siu-Fong Or; David Keith Smith; Wanling Yang; Yu-Lung Lau
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 282 KB
- Volume
- 149A
- Category
- Article
- ISSN
- 1552-4825
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Marfan Syndrome (MfS) is an autosomal dominant inherited connective tissue disorder with variable phenotypic expression of cardiovascular, skeletal and ocular manifestations. Cardiovascular complications, such as aortic aneurysm and dissection drastically reduce life expectancy of individuals with M
Mutations in the fibrillin-1 gene on chromosome 15q21.1 have been found to cause Marfan syndrome, a dominantly inherited disorder characterised by clinically variable skeletal, ocular, and cardiovascular abnormalities. In this study we screened all 65 exons of the fibrillin-1 gene in 20 Marfan syndr