Analysis of the novel factor X gene mutation Glu51Lys in two families with factor X-Riyadh anomaly.
Thromb Haemost
; 97(4): 542-5, 2007 Apr.
Article
em En
| MEDLINE
| ID: mdl-17393015
ABSTRACT
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.
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Bases de dados:
MEDLINE
Assunto principal:
Fator X
/
Mutação de Sentido Incorreto
/
Deficiência do Fator X
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
/
Adult
/
Aged
/
Child
/
Female
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
Asia
Idioma:
En
Revista:
Thromb Haemost
Ano de publicação:
2007
Tipo de documento:
Article
País de afiliação:
Arábia Saudita