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RESEARCH PRODUCT
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.
Christine BinquetChristine MoninoLaurence FaivreGwenaëlle Collod-béroudGwenaëlle Collod-béroudDalil HamrounGuillaume JondeauGuillaume JondeauChristophe BéroudLuitgard M. NeumannPrateek GuptaCatherine BoileauMireille ClaustresDianna M. MilewiczElodie GautierMaurice GodfreyChristoph MarschallHanns Georg KleinCheryl L. MaslenMélissa Yana Frédéricsubject
Fibrillin-2MESH : Polymorphism GeneticFibrillin-1DNA Mutational AnalysisMESH : Genotype[SDV.GEN] Life Sciences [q-bio]/Geneticscomputer.software_genreMESH: Genotype0302 clinical medicineGenotypeDatabases GeneticMissense mutationCongenital contractural arachnodactylyMESH: DNA Mutational AnalysisGenetics (clinical)MESH: Databases GeneticRegulation of gene expressionGenetics0303 health sciencesDatabaseMESH : Gene Expression RegulationMicrofilament ProteinsPhenotypeMESH: Gene Expression RegulationBeals-Hecht syndrome3. Good healthINCMESH : PhenotypePhenotypeMESH : MutationFibrillinmusculoskeletal diseasesMESH: MutationGenotypeMESH : Microfilament Proteinsdatabase OFFICIAL JOURNAL wwwhgvsorg & 2008 WILEY-LISSLocus (genetics)fibrillinMESH : DNA Mutational AnalysisBiologyFibrillinsMESH: PhenotypeMESH: Sequence Homology Nucleic Acidcongenital contractural arachnodactyly03 medical and health sciencesMESH: Microfilament ProteinsSequence Homology Nucleic AcidMESH: Polymorphism GeneticGeneticsmedicineHumansMESH : Sequence Homology Nucleic AcidFBN2CCAMESH : Databases GeneticGene030304 developmental biology[SDV.GEN]Life Sciences [q-bio]/GeneticsPolymorphism GeneticMESH: HumansMESH : Humansmedicine.diseaseGene Expression RegulationMutation[ SDV.GEN ] Life Sciences [q-bio]/Geneticscomputer030217 neurology & neurosurgerydescription
International audience; Congenital contractural arachnodactyly (CCA) is an extremely rare disease, due to mutations in the FBN2 gene encoding fibrillin-2. Another member of the fibrillin family, the FBN1 gene, is involved in a broad phenotypic continuum of connective-tissue disorders including Marfan syndrome. Identifying not only what is in common but also what differentiates these two proteins should enable us to better comprehend their respective functions and better understand the multitude of diseases in which these two genes are involved. In 1995 we created a locus-specific database (LSDB) for FBN1 mutations with the Universal Mutation Database (UMD) tool. To facilitate comparison of identified mutations in these two genes and search for specific functional areas, we created an LSDB for the FBN2 gene: the UMD-FBN2 database. This database lists 26 published and six newly identified mutations that mainly comprise missense and splice-site mutations. Although the number of described FBN2 mutations was low, the frequency of joint dislocation was significantly higher with missense mutations when compared to splice site mutations.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2009-02-01 |