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A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family

Aboukhamis, Imad
Farho, Jaafar
Chamaa, Sahar
Published in Blood coagulation & fibrinolysis. 2011, vol. 22, no. 2, p. 148-50
Abstract Congenital afibrinogenemia is a rare autosomal recessive coagulation disorder characterized essentially by bleeding symptoms, but miscarriages and, paradoxically, thromboembolic events can also occur. Most reported mutations leading to congenital afibrinogenemia are located in FGA encoding the fibrinogen A α-chain. In this study, we analysed 12 individuals from a consanguineous Syrian family with reduced or absent fibrinogen levels: those with fibrinogen levels around 1 g/l (n = 7) were found to be heterozygous for a novel frameshift mutation in FGA exon 5 (c.1846 del A) and those with undetectable fibrinogen levels (n = 5) were homozygous for the same mutation. This novel frameshift mutation is the most C-terminal causative FGA mutation identified to date in afibrinogenemic patients. The resulting aberrant Aα-chain (p.Thr616HisfsX32) is most likely synthesized, but is less efficiently assembled and/or secreted into the circulation given the phenotype of asymptomatic hypofibrinogenemia in heterozygous individuals and bleeding diathesis in homozygous individuals.
Keywords AdultAfibrinogenemia/congenital/genetics/physiopathologyConsanguinityDisease SusceptibilityExonsFemaleFibrinogen/genetics/metabolismFrameshift MutationGenetic Association StudiesGenetic TestingGenotypeHemorrhageHeterozygoteHomozygoteHumansMalePedigreePhenotypeSyria
PMID: 21245743
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Research group Recherche translationnelle : anomalies de l'hémostase et thromboses (504)
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LEVRAT, Emmanuel et al. A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family. In: Blood coagulation & fibrinolysis, 2011, vol. 22, n° 2, p. 148-50. doi: 10.1097/MBC.0b013e32834330d9 https://archive-ouverte.unige.ch/unige:32728

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Deposited on : 2014-01-02

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