title: The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.
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 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.
authors.affiliation: INSERM, U827, Montpellier, F-34000 France.
authors.forename: Melissa Yana
authors.initials: MY
authors.lastname: Frédéric
authors.forename: Christine
authors.initials: C
authors.lastname: Monino
authors.forename: Christoph
authors.initials: C
authors.lastname: Marschall
authors.forename: Dalil
authors.initials: D
authors.lastname: Hamroun
authors.forename: Laurence
authors.initials: L
authors.lastname: Faivre
authors.forename: Guillaume
authors.initials: G
authors.lastname: Jondeau
authors.forename: Hanns-Georg
authors.initials: HG
authors.lastname: Klein
authors.forename: Luitgard
authors.initials: L
authors.lastname: Neumann
authors.forename: Elodie
authors.initials: E
authors.lastname: Gautier
authors.forename: Christine
authors.initials: C
authors.lastname: Binquet
authors.forename: Cheryl
authors.initials: C
authors.lastname: Maslen
authors.forename: Maurice
authors.initials: M
authors.lastname: Godfrey
authors.forename: Prateek
authors.initials: P
authors.lastname: Gupta
authors.forename: Dianna
authors.initials: D
authors.lastname: Milewicz
authors.forename: Catherine
authors.initials: C
authors.lastname: Boileau
authors.forename: Mireille
authors.initials: M
authors.lastname: Claustres
authors.forename: Christophe
authors.initials: C
authors.lastname: Béroud
authors.forename: Gwenaëlle
authors.initials: G
authors.lastname: Collod-Béroud