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
Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniques
β Scribed by Caroline Hayward; Mary E. M. Porteous; David J. H. Brock
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 451 KB
- Volume
- 3
- Category
- Article
- ISSN
- 1059-7794
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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
## Communicated by Ulf Landegren Cystinuria is an autosomal recessive disorder that affects luminal transport of cystine and dibasic amino acids in the kidneys and the small intestine. Three subtypes of cystinuria can be defined biochemically, and the classical form (type I) has been associated wit
The association of progeroid features and lipodystrophy was very recently described in a female adult with additional manifestations of Marfan syndrome. Mutation analysis of the fibrillin I (FBN1) gene revealed a novel heterozygous frameshift mutation at the 3' end in that patient. Here, we report o