Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.
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 www.umd.be/. We have also recently developed a FBN1 polymorphism database in order to facilitate diagnostics.
Collod-Béroud
Gwenaëlle
G
Laboratoire de Génétique Moléculaire, IURC, Montpellier, France. gwenaelle.beroud@igh.cnrs.fr
Le Bourdelles
Saga
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Ades
Lesley
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Ala-Kokko
Leena
L
Booms
Patrick
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Boxer
Maureen
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Child
Anne
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Comeglio
Paolo
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De Paepe
Anne
A
Hyland
James C
JC
Holman
Katerine
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Kaitila
Ilkka
I
Loeys
Bart
B
Matyas
Gabor
G
Nuytinck
Lieve
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Peltonen
Leena
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Rantamaki
Terhi
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Robinson
Peter
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Steinmann
Beat
B
Junien
Claudine
C
Béroud
Christophe
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Boileau
Catherine
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D000818:Animals; D002417:Cattle; D030541:Databases, Genetic / Q000639:trends*; D004285:Dogs; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D008382:Marfan Syndrome / Q000235:genetics; D051379:Mice; D008840:Microfilament Proteins / Q000235:genetics*; D009154:Mutation; D011110:Polymorphism, Genetic; D051381:Rats; D054392:Adipokines
D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines; C000605724:Fbn1 protein, mouse; C000605725:Fbn1 protein, rat