Marfan syndrome dating

Several mutations were identified in this gene in CCA patients.

The 4-cysteine domain in the N-terminus of fibrillins is homologous to similar 4-cysteine domains in the N-terminal extended forms of the LTBPs.Fibrillin-1 and -2 co-distribute in elastic and non-elastic connective tissues of the developing embryo, with a preferential accumulation of the FBN2 gene product in elastic fiber-rich matrices.Mouse study of the developmental expression of the fibrillin genes has revealed different patterns.Presently no definite genotype/phenotype correlations have been identified except for neonatal mutations (see pathogenic mechanisms).To facilitate their identification, a ‘Marfan database’ has been developed that includes not only molecular but also clinical data.