Scientific Article
previous document  unige:8999  next document
add to browser collection
Title

A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream

Authors
El Khorassani, M.
El Khattab, M.
Published in Blood Coagulation and Fibrinolysis. 2009, vol. 20, no. 5, p. 385-387
Abstract Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by complete absence of detectable fibrinogen and bleeding symptoms. Many causative mutations have been described to date in all three fibrinogen genes, most of them in the fibrinogen A alpha-chain gene (FGA), but also in the fibrinogen B beta-chain gene (FGB) and the fibrinogen gamma-chain gene (FGG). We report here a novel frameshift mutation (p.Glu262AspfsX158) in FGA exon 5 predicted to lead to a truncated polypeptide with an exceptionally long stretch of abnormal residues identified in homozygosity in a patient with congenital afibrinogenemia. Interestingly, five other frameshift mutations predicted to truncate at the same stop codon have already been described in FGA exon 5.
Keywords Afibrinogenemia/ geneticsCodon, Nonsense/ geneticsConsanguinityDNA Mutational AnalysisExons/geneticsFemaleFrameshift MutationHemorrhage/etiologyHomozygoteHumansInfant, NewbornItalyMorocco/ethnologySequence Deletion
Identifiers
PMID: 19417632
Full text
Citation
(ISO format)
ROBERT-EBADI, Helia et al. A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream. In: Blood Coagulation and Fibrinolysis, 2009, vol. 20, n° 5, p. 385-387. https://archive-ouverte.unige.ch/unige:8999

168 hits

1 download

Update

Deposited on : 2010-07-12

Export document
Format :
Citation style :