Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes

Details

Serval ID
serval:BIB_1E4E89639152
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes
Journal
Human Genetics
Author(s)
Neerman-Arbez  M., de Moerloose  P., Honsberger  A., Parlier  G., Arnuti  B., Biron  C., Borg  J. Y., Eber  S., Meili  E., Peter-Salonen  K., Ripoll  L., Vervel  C., d'Oiron  R., Staeger  P., Antonarakis  S. E., Morris  M. A.
ISSN
0340-6717
Publication state
Published
Issued date
03/2001
Peer-reviewed
Oui
Volume
108
Number
3
Pages
237-40
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Mar
Abstract
Congenital afibrinogenemia is an autosomal recessive disorder characterized by the complete absence of detectable fibrinogen. We previously identified the first causative mutations for this disease in a non-consanguineous Swiss family. These were homozygous deletions of approximately 11 kb of the fibrinogen alpha chain gene (FGA). Our subsequent study revealed that the majority of cases were attributable to truncating mutations in FGA, with the most common mutation affecting the donor splice site in FGA intron 4 (IVS4+1 G-->T). Here, we report 13 further unrelated patients with mutations in FGA, confirming the relative importance of this gene compared with FGG and FGB in the molecular aetiology of afibrinogenemia. Three other patients were homozygous for mutations in FGG. Eight novel mutations were identified: five in FGA and three in FGG. Sufficient mutation data is now available to permit an effective strategy for the genetic diagnosis of congenital afibrinogenemia.
Keywords
Afibrinogenemia/congenital/*genetics Blotting, Southern DNA/chemistry/genetics DNA Mutational Analysis Fibrinogen/*genetics Humans Infant Infant, Newborn Multigene Family/*genetics Mutation
Pubmed
Web of science
Create date
14/02/2008 15:13
Last modification date
20/08/2019 12:54
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