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Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene
G Collod-Béroud1, C Béroud, L Adès
1INSERM U383, Hôpital Necker-Enfants Malades, Université René Descartes, Paris V, 149-161 rue de Sèvres, 75743 Paris Cedex 15, France.
Abstract:
Fibrillin is the major component of extracellular microfibrils. Mutations in the fibrillin gene on chromosome 15 (FBN1) were described at first in the heritable connective tissue disorder, Marfan syndrome (MFS). More recently, FBN1 has also been shown to harbor mutations related to a spectrum of conditions phenotypically related to MFS. These mutations are private, essentially missense, generally non-recurrent and widely distributed throughout the gene. To date no clear genotype/phenotype relationship has been observed excepted for the localization of neonatal mutations in a cluster between exons 24 and 32. The second version of the computerized Marfan database contains 89 entries. The software has been modified to accomodate new functions and routines.
Insights
Mutations in the fibrillin gene (FBN1) cause Marfan syndrome (MFS) and related disorders. While mutations are widespread, neonatal cases show a specific cluster, suggesting localized genotype-phenotype correlations.
Area of Science:
- Genetics
- Molecular Biology
- Connective Tissue Disorders
Background:
- Fibrillin is a key protein in extracellular microfibrils.
- Mutations in the fibrillin gene (FBN1) are linked to Marfan syndrome (MFS).
- FBN1 mutations also cause a range of MFS-related conditions.
Purpose of the Study:
- To analyze the spectrum of FBN1 mutations.
- To investigate genotype-phenotype correlations in MFS and related disorders.
- To update the Marfan database with new entries and functionalities.
Main Methods:
- Analysis of FBN1 gene mutations.
- Review of clinical data from Marfan database entries.
- Software development for database management.
Main Results:
- FBN1 mutations are typically private, missense, non-recurrent, and distributed throughout the gene.
- A specific cluster of neonatal mutations is observed between exons 24 and 32.
- The Marfan database now includes 89 entries with updated software.
Conclusions:
- FBN1 mutations are the genetic basis for Marfan syndrome and related disorders.
- A potential genotype-phenotype correlation exists for neonatal mutations.
- The updated Marfan database serves as a valuable resource for research.
