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Title

Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia

Authors
Tirefort, Yordanka
Alson, Olivat Rakoto
Published in Blood Coagulation and Fibrinolysis. 2012, vol. 23, no. 6, p. 556-8
Abstract Congenital afibrinogenemia is characterized by the complete absence of fibrinogen, the precursor of the major protein constituent of the blood clot, fibrin. Extensive allelic heterogeneity has been found for this disorder and more than 40 mutations, the majority in FGA, have been identified in homozygosity or in compound heterozygosity. However, the continuous genetic analysis of additional patients still allows the identification of novel mutations and thus the greater understanding of fibrinogen structure and function. Here we report the identification of a novel missense mutation in FGA exon 1 affecting the translation initiation codon: c.1 A>T (ATG>TTG) M1L, identified in a young boy from Madagascar in compound heterozygosity with a second mutation in FGA exon 4: c.385 C>T (CGA>TGA) R129X. The patient suffered from occasional severe arthralgias (shoulder, knee) most likely caused by intra-articular bleeding with subsequent inflammation.
Keywords Afibrinogenemia/complications/congenital/diagnosis/geneticsArthralgia/complications/diagnosis/geneticsChildCodon, InitiatorDNA Mutational AnalysisExonsFibrinogen/geneticsHeterozygoteHomozygoteHumansMaleMutation, MissensePedigree
Identifiers
PMID: 22732251
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Article (Author postprint) (84 Kb) - document accessible for UNIGE members only Limited access to UNIGE
Structures
Research group Bases moléculaires des anomalies génétiques de l'hémostase (504)
Project FNS: 31-119845
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(ISO format)
TIREFORT, Yordanka et al. Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia. In: Blood Coagulation and Fibrinolysis, 2012, vol. 23, n° 6, p. 556-8. https://archive-ouverte.unige.ch/unige:32312

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Deposited on : 2013-12-17

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