Skip to Main content Skip to Navigation
Journal articles

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.
Document type :
Journal articles
Complete list of metadatas

Cited literature [75 references]  Display  Hide  Download

https://www.hal.inserm.fr/inserm-00343886
Contributor : Gwenaëlle Collod-Beroud <>
Submitted on : Wednesday, December 20, 2017 - 6:40:46 PM
Last modification on : Wednesday, August 19, 2020 - 11:17:32 AM

File

2009-HumMut ...
Files produced by the author(s)

Identifiers

Citation

Melissa Yana Frédéric, Christine Monino, Christoph Marschall, Dalil Hamroun, Laurence Faivre, et al.. The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.. Human Mutation, Wiley, 2009, 30 (2), pp.181-90. ⟨10.1002/humu.20794⟩. ⟨inserm-00343886⟩

Share

Metrics

Record views

886

Files downloads

1208