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Update of the UMD‐ FBN1 mutation database and creation of an FBN1 polymorphism database
Author(s) -
CollodBéroud Gwenaëlle,
Le Bourdelles Saga,
Ades Lesley,
AlaKokko Leena,
Booms Patrick,
Boxer Maureen,
Child Anne,
Comeglio Paolo,
De Paepe Anne,
Hyland James C.,
Holman Katerine,
Kaitila Ilkka,
Loeys Bart,
Matyas Gabor,
Nuytinck Lieve,
Peltonen Leena,
Rantamaki Terhi,
Robinson Peter,
Steinmann Beat,
Junien Claudine,
Béroud Christophe,
Boileau Catherine
Publication year - 2003
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.10249
Subject(s) - fibrillin , database , biology , genetics , mutation , gene , human genome , genotype , genome , computational biology , computer science
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. Hum Mutat 22:199–208, 2003. © 2003 Wiley‐Liss, Inc.