Software and database for the analysis of mutations in the human FBN1 gene

Gwenaelle Collod (1) , Christophe Béroud (1) , Thierry Soussi (2) , Claudine Junien (1) , Catherine Boileau (3)

1 Génétique, chromosome et cancer
2 CHU Tenon [AP-HP]
3 LVTS (UMR_S_1148 / U1148) - Laboratoire de Recherche Vasculaire Translationnelle

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 phe-notypically related to MFS and many mutations will have to be accumulated before genotype/phenotype relationships emerge. To facilitate mutational analysis of the FBN1 gene, a software package along with a computerized database (currently listing 63 entries) have been created.

Domaines: Bio-Informatique, Biologie Systémique [q-bio.QM]; Génétique humaine

Gwenaelle Collod, Christophe Béroud, Thierry Soussi, Claudine Junien, Catherine Boileau. Software and database for the analysis of mutations in the human FBN1 gene. Nucleic Acids Research, 1996, 24 (1), pp.137-140. ⟨10.1093/nar/24.1.137⟩. ⟨hal-01662876⟩