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Curr Opin Genet Dev. 1996 Jun;6(3):309-15.

Fibrillln mutations in Marfan syndrome and related phenotypes.

Author information

1
Brookdale Center for Molecular Biology, Mount Sinai School of Medicine, New York, New York 10029, USA. ramirez@mavax.mssm.edu

Abstract

A casual association has been established between mutations in the fibrillin 1 gene and Marfan syndrome and related phenotypes. Analysis of mutations in these disease types has provided new insights into microfibril assembly and function. These include evidence for a mutation in a fibrillin 1 domain associated with severe phenotype; indication of profibrillin processing by a furin-like endoprotease; linkage between extracellular processing and fibrillin 1 polymerization; and involvement of calcium binding in monomer stabilization and microfibril assembly. Identification of intragenic DNA polymorphisms and determination of intron/exon junction sequences have significantly improved our ability to diagnose Marfan syndrome and to detect fibrillin 1 mutations. Additional work has provided strong evidence for structural and functional heterogeneity of microfibrillin. The evidence includes the identification of fibrillin 2, a microfibrillar component structurally related to fibrillin 1; the differential pattern of gene expression of the two fibrillin; and the association of fibrillin 2 mutations with congenital contractural arachnodactyly.

PMID:
8791520
[Indexed for MEDLINE]

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