SOFTWARE AND DATABASE FOR THE ANALYSIS OF MUTATIONS IN THE HUMAN FBN1GENE

Fibrillin is the major component of extracellular microfibrils. Mutati ons in the fibrillin gene on chromosome 15 (FBN1) were described at fi rst 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 and many mut ations will have to be accumulated before genotype/phenotype relations hips emerge. To facilitate mutational analysis of the FBN1 gene, a sof tware package along with a computerized database (currently listing 63 entries) have been created.