The second version of the computerized Marfan database contains 89 entries of FBN1 mutations, with updated software to accommodate new functions for mutation analysis.
The updated Marfan Database provides a centralized resource of 89 FBN1 mutations to facilitate genotype/phenotype analysis in Marfan syndrome.
Fibrillin is the major component of extracellular microfibrils. Mutations in the fibrillin gene on chromosome 15 (FBN1) were described at first in the heritable connective tissue disorder, Marfan syndrome (MFS). More recently, FBN1 has also been shown to harbor mutations related to a spectrum of conditions phenotypically related to MFS. These mutations are private, essentially missense, generally non-recurrent and widely distributed throughout the gene. To date no clear genotype/phenotype relationship has been observed excepted for the localization of neonatal mutations in a cluster between exons 24 and 32. The second version of the computerized Marfan database contains 89 entries. The software has been modified to accomodate new functions and routines.
Collod‐Béroud et al. (1997) studied Marfan syndrome and related conditions (n=89). Marfan database (second edition) was evaluated. The second version of the computerized Marfan database contains 89 entries of FBN1 mutations, with updated software to accommodate new functions for mutation analysis.