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 articlepeer-review

31 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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