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Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database
Gwenaëlle Collod-Béroud1, Saga Le Bourdelles, Lesley Ades
1Laboratoire de Génétique Moléculaire, IURC, Montpellier, France. gwenaelle.beroud@igh.cnrs.fr
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 www.umd.be/. We have also recently developed a FBN1 polymorphism database in order to facilitate diagnostics.
Insights
The UMD-FBN1 database standardizes information on fibrillin gene (FBN1) mutations, crucial for understanding Marfan syndrome and related fibrillinopathies. It aids researchers in analyzing FBN1 mutations and their clinical impacts.
Area of Science:
- Genetics
- Molecular Biology
- Bioinformatics
Background:
- Fibrillin, the primary component of extracellular microfibrils, is encoded by the FBN1 gene.
- Mutations in FBN1 cause Marfan syndrome (MFS) and related type-1 fibrillinopathies.
- Standardized mutation data is essential for genetic research and clinical diagnosis.
Purpose of the Study:
- To establish and maintain a comprehensive human FBN1 mutation database (UMD-FBN1).
- To facilitate standardized mutational analysis and structure/function/phenotype/genotype relationship studies.
- To provide a centralized resource for FBN1 mutation information.
Main Methods:
- Creation of the UMD-FBN1 database, including a software package with advanced search tools.
- Inclusion of mutation data at gene, protein, and clinical levels.
- Adherence to HUGO Mutation Database Initiative (MDI) and Human Genome Variation Society (HGVS) guidelines.
Main Results:
- The UMD-FBN1 database has become a global reference, with over 220,000 interrogations since 1998.
- The current update includes 559 entries, with 421 novel mutations.
- A complementary FBN1 polymorphism database has been developed to aid diagnostics.
Conclusions:
- UMD-FBN1 is a vital, continuously updated resource for FBN1 mutation research.
- The database supports standardized genetic analysis and enhances understanding of fibrillinopathies.
- The development of a polymorphism database further supports clinical diagnostics.