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Akram Al-Hilali, Karin Wulff, Hikmat Abdel-Razeq, Khalida Abu Saud, Fateh Al-Gaili, Falko H. Herrmann
Analysis of the novel factor X gene mutation Glu51Lys in two families with factor X-Riyadh anomaly
Keywords: Prothrombin time,partial thromboplastin time,factor X-Riyadh, exon 4, mutation
Two families with factor X(FX)-Riyadh have been identified (one of them related to the originally reported family). Affected members of both families exhibit prolongation in prothrombin time (PT) with normal partial thromboplastin time (PTT) and low assay levels of FX, when measured by PT-based assay. They do not have clinical bleeding diathesis, regardless of the PT prolongation. FX genes of the affected family members were analyzed by sequence analysis. A novel missense mutation in exon 4 of the FX gene, which causes the Glu51Lys substitution in the first epidermal growth factor-like domain of FX was found. The Glu51Lys mutation represents a type II mutation with low FX coagulant activity in the extrinsic pathway and normal FX antigen levels. This mutation may result in disruption of the predicted H-bonding between residue Glu51 of FX and the Asn199 residue of the tissue factor (TF) in the FX/TF/factor VIIa ternary complex, producing the phenotype FX deficiency Riyadh, with prolonged PT and normal PTT.
Thrombosis and Haemostasis, Schattauer
Print ISSN: 0340-6245
Volume: 97, 04/2007
Pages: 542 - 545