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The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.

Melissa Yana Frédéric 1 Christine Monino 1 Christoph Marschall 2 Dalil Hamroun 1 Laurence Faivre 3 Guillaume Jondeau 4, 5, 6 Hanns-Georg Klein 2 Luitgard Neumann 7 Elodie Gautier 8 Christine Binquet 8 Cheryl Maslen 9 Maurice Godfrey 10 Prateek Gupta 11 Dianna Milewicz 11 Catherine Boileau 5, 12, 13, 14 Mireille Claustres 1 Christophe Béroud 1 Gwenaëlle Collod-Béroud 1, *
* Corresponding author
1 LGMR - Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques
2 Center for Human Genetics and Laboratory Medicine
3 Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon)
4 Service de cardiologie
5 Consultation Marfan
6 LBPC - Hémostase, bio-ingénierie et remodelage cardiovasculaires
7 Charité Campus Virchow-Klinikum (CVK)
8 CIC-EC - Centre d'Investigation Clinique 1432 (Dijon) - Epidemiologie Clinique/Essais Cliniques
9 Department of Molecular and Medical Genetics
10 Center for Human Molecular Genetics
11 Department of Internal Medicine and Neurosurgery
12 Service de biochimie, d'hormonologie et de génétique moléculaire [CHU Amrboise Paré]
13 HUPO - Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest
14 Inserm U781 - Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement
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.
Keywords : fibrillin FBN2 Beals-Hecht syndrome congenital contractural arachnodactyly CCA database OFFICIAL JOURNAL wwwhgvsorg & 2008 WILEY-LISS INC
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https://www.hal.inserm.fr/inserm-00343886
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Submitted on : Wednesday, December 20, 2017 - 6:40:46 PM
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INSERM | UNIV-MONTPELLIER | BS | USPC | UNIV-BOURGOGNE | UNIV-PARIS13 | UNIV-PARIS5 | GALILE | UNIV-PARIS7 | SORBONNE-PARIS-NORD | UNIV-PARIS

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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⟩

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