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The FBN2 gene: new mutations, locus‐specific database (Universal Mutation Database FBN2 ), and genotype‐phenotype correlations
Author(s) -
Frédéric Melissa Yana,
Monino Christine,
Marschall Christoph,
Hamroun Dalil,
Faivre Laurence,
Jondeau Guillaume,
Klein HannsGeorg,
Neumann Luitgard,
Gautier Elodie,
Binquet Christine,
Maslen Cheryl,
Godfrey Maurice,
Gupta Prateek,
Milewicz Dianna,
Boileau Catherine,
Claustres Mireille,
Béroud Christophe,
CollodBéroud Gwenaëlle
Publication year - 2009
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.20794
Subject(s) - missense mutation , biology , genetics , gene , database , fibrillin , locus (genetics) , phenotype , mutation , computer science
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.