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Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.

Gwenaëlle Collod-Béroud 1, 2, * Saga Le Bourdelles 3 Lesley Ades 4, 5 Leena Ala-Kokko 6, 7 Patrick Booms 8 Maureen Boxer 9 Anne H. Child 10 Paolo Comeglio 10 Anne de Paepe 11 James C Hyland 12 Katerine Holman 4 Ilkka Kaitila 13 Bart L. Loeys 11 Gabor Matyas 14 Lieve Nuytinck 12 Leena Peltonen 15, 16 Terhi Rantamaki 16 Peter N. Robinson 8 Beat Steinmann 14 Claudine Junien 2, 3 Christophe Béroud 1 Catherine Boileau 2, 3 
Abstract : Fibrillin is the major component of extracellular microfibrils. Mutations in the fibrillin gene on chromosome 15 (FBN1) were first described in the heritable connective disorder, Marfan syndrome (MFS). FBN1 has also been shown to harbor mutations related to a spectrum of conditions phenotypically related to MFS, called "type-1 fibrillinopathies." In 1995, in an effort to standardize the information regarding these mutations and to facilitate their mutational analysis and identification of structure/function and phenotype/genotype relationships, we created a human FBN1 mutation database, UMD-FBN1. This database gives access to a software package that provides specific routines and optimized multicriteria research and sorting tools. For each mutation, information is provided at the gene, protein, and clinical levels. This tool is now a worldwide reference and is frequently used by teams working in the field; more than 220,000 interrogations have been made to it since January 1998. The database has recently been modified to follow the guidelines on mutation databases of the HUGO Mutation Database Initiative (MDI) and the Human Genome Variation Society (HGVS), including their approved mutation nomenclature. The current update shows 559 entries, of which 421 are novel. UMD-FBN1 is accessible at We have also recently developed a FBN1 polymorphism database in order to facilitate diagnostics.
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Submitted on : Wednesday, December 20, 2017 - 6:29:37 PM
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Gwenaëlle Collod-Béroud, Saga Le Bourdelles, Lesley Ades, Leena Ala-Kokko, Patrick Booms, et al.. Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.. Human Mutation, Wiley, 2003, 22 (3), pp.199-208. ⟨10.1002/humu.10249⟩. ⟨inserm-00143263v2⟩



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