The FBN2 gene: New mutations, locus-specific database (universal mutation database FBN2), and genotype-phenotype correlations

Melissa Yana Frédéric, Christine Monino, Christoph Marschall, Dalil Hamroun, Laurence Faivre, Guillaume Jondeau, Hanns Georg Klein, Luitgard Neumann, Elodie Gautier, Christine Binquet, Cheryl Maslen, Maurice Godfrey, Prateek Gupta, Dianna Milewicz, Catherine Boileau, Mireille Claustres, Christophe Béroud, Gwenaëlle Collod-Béroud

    Research output: Contribution to journalReview article

    29 Scopus citations

    Abstract

    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 theUniversal 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. The database is freely available at http://umd.be.

    Original languageEnglish (US)
    Pages (from-to)181-190
    Number of pages10
    JournalHuman mutation
    Volume30
    Issue number2
    DOIs
    StatePublished - Feb 2009

    Keywords

    • Beals-Hecht syndrome
    • CCA
    • Congenital contractural arachnodactyly
    • Database
    • FBN2
    • Fibrillin

    ASJC Scopus subject areas

    • Genetics
    • Genetics(clinical)

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  • Cite this

    Frédéric, M. Y., Monino, C., Marschall, C., Hamroun, D., Faivre, L., Jondeau, G., Klein, H. G., Neumann, L., Gautier, E., Binquet, C., Maslen, C., Godfrey, M., Gupta, P., Milewicz, D., Boileau, C., Claustres, M., Béroud, C., & Collod-Béroud, G. (2009). The FBN2 gene: New mutations, locus-specific database (universal mutation database FBN2), and genotype-phenotype correlations. Human mutation, 30(2), 181-190. https://doi.org/10.1002/humu.20794