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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 Child 10 Paolo Comeglio 10 Anne de Paepe 11 James C Hyland 12 Katerine Holman 4 Ilkka Kaitila 13 Bart Loeys 11 Gabor Matyas 14 Lieve Nuytinck 12 Leena Peltonen 15, 16 Terhi Rantamaki 16 Peter Robinson 8 Beat Steinmann 14 Claudine Junien 2, 3 Christophe Béroud 1 Catherine Boileau 2, 3
* Corresponding author
1 LGMR - Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques
2 Génétique, chromosome et cancer
3 Service de biochimie, d'hormonologie et de génétique moléculaire [CHU Amrboise Paré]
4 Department of medical genetics
5 Department of Paediatrics and Child Health
6 Collagen Research Unit, Biocenter and Department of Medical Biochemistry and Molecular Biology
7 Center for Gene Therapy and Department of Medicine
8 Institut für Medizinische Genetik
9 North Thames (East) Clinical Molecular Genetics Laboratory, Unit of Clinical Genetics and Fetal Medicine
10 Sonalee Laboratory for Marfan syndrome and related disorders, Department of Cardiological Sciences
11 Center for Medical Genetics [Ghent]
12 Department of Pathology and Laboratory Medicine and Center for Gene Therapy
13 Pediatrician and Clinical Geneticist, Clinical Genetics Unit
14 Division of Metabolism and Molecular Pediatrics
15 Department of Human Genetics
16 Department of Human Molecular Genetics
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.
Keywords : Fibrillin-1 FBN1 fibrillinopathies Marfan syndrome MFS database DATABASES:
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https://www.hal.inserm.fr/inserm-00143263
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Submitted on : Wednesday, December 20, 2017 - 6:29:37 PM
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INSERM | BS | UNIV-MONTPELLIER | UNIV-PARIS5 | UNIV-PARIS

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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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