Mutations in the FBN1 gene have been characterised in patients affected by Marfan syndrome and Marfan-related disorders. Starting with genomic DNA, we analysed the FBN1 gene using PCR, SSCP and/or dHPLC analysis, and automatic sequencing of abnormal bands/peaks, in a consecutive series of 508 patien
Fabrillin (FBN1) mutations in Marfan syndrome
β Scribed by Caroline Hayward; Marion Keston; David J. H. Brock; Harry C. Dietz
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 93 KB
- Volume
- 1
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
β¦ Synopsis
Marfan syndrome (MFS), a disorder of connective tissue inherited as an autosomal dominant, has been mapped to 15q2 1.1. (
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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
Marfan syndrome (MFS), an autosomal dominant disorder of the extracellular matrix, is due to mutations in fibrillin-1 (FBN1) gene. Investigations carried out in the last decade, unveiled the unpredictability of the site of the mutation, which could be anywhere in the gene. FBN1 mutations have been r
The Marfan syndrome (MFS) is a pleiotropic, autosomal dominant disorder of connective tissue with highly variable clinical manifestations including aortic dilatation and dissection, ectopia lentis, and a series of skeletal anomalies. Mutations in the gene for fibrillin-1 (FBN1) cause MFS, and at lea
## Abstract Marfan syndrome is an autosomal dominant condition, with manifestations mainly in the skeletal, ocular, and cardiovascular systems. The disorder is caused by mutations in fibrillinβ1 gene (__FBN1__). The majority of these are familyβspecific point mutations, with a small number being pr