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Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains

✍ Scribed by Harry C. Dietz; Jorge M. Saraiva; Reed E. Pyeritz; Garry R. Cutting; Clair A. Francomano


Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
852 KB
Volume
1
Category
Article
ISSN
1059-7794

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✦ Synopsis


Communicated by Hnig H


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Missense mutations of conserved glycine
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In six index cases/families referred for Marfan syndrome (MFS) molecular diagnosis, we identified six novel mutations in the FBN1 gene: c.1753G>C (p.Gly585Arg), c.2456G>A (p.Gly819Glu), c.4981G>A (p.Gly1661Arg), c.5339G>A (p.Gly1780Glu), c.6418G>A (p.Gly2140Arg) and c.6419G>A (p.Gly2140Glu). These v

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## Communicated by Jurgen Horst Marfan syndrome (MFS) is an autosomal-dominant disorder of the fibrous connective tissue that is typically caused by mutations in the gene coding for fibrillin-1 (FBN1), a major component of extracellular microfibrils. The clinical spectrum of MFS is highly variable

Mutation screening of the fibrillin-1 (F
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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