Factor X Frankfurt I

Nöbauer-Huhmann, I.-M.; Holler, W.; Krinninger, B; Turecek, P. L.; Richter, G; Scharrer, I.; Forberg, E.; Watzke, Herbert

doi:10.1097/00001721-199803000-00005

Cited by 15 publications

(1 citation statement)

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“…The mutations observed in these families were located in exon 8 in five instances: Pro343Ser, Arg282Asn, Gly366Ser, Arg405Gly (twice), and exons 2, 5, and 6, namely, Gla25Lys, Arg114Gly, and Val196Met (one each). [10][11][12][13][14][15] Three families were Type I defects (concomitant decrease of FX activity and FX antigen), whereas the remaining five were Type 2 (reduced FX activity, normal or near normal FX antigen) [Table 1].…”

Section: Resultsmentioning

confidence: 99%

Mutations Seen in Families with Factor X Deficiency Composed of Only Heterozygous Patients who Present a Bleeding Tendency

Girolami,

Minoldo,

Ferrari

et al. 2018

Clin Res Hematol

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Objective:The objective of the study was to ascertain the mutations prevalent in families with patients with heterozygous Factor X (FX) deficiency and a bleeding tendency. Patients and Methods: Eight families with proven heterozygous FX deficiency were investigated. Two of these families were studied by the authors, whereas six were gathered from the literature. All families were composed only by heterozygotes or normal subject. No homozygotes were present. FX activity was evaluated according to the extrinsic (tissue thromboplastin), intrinsic (cephalin), and Russell viper venom-dependent assay. FX antigen was assayed by an ELISA method. Molecular analysis was carried out by the Sanger method. Results: FX activity was about 50% of normal regardless of the assay used. FX antigen was instead normal. The two home investigated families showed the Pro343Ser and the Arg405Gly mutation. The mutations reported in the other families were Asp282Asn, Gla25Lys, Gly366Ser, Arg114Gly, Arg405Gly, and Val196Met. Five of these mutation involved exon 8 of the catalytic domain. The remaining three involved exons 2, 5, or 6, respectively. Conclusions: There is no association between a specific mutation and the bleeding tendency. Bleeding in heterozygous FX deficiency correlates with FX activity level rather than with mutations.

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Section: Resultsmentioning

confidence: 99%

Mutations Seen in Families with Factor X Deficiency Composed of Only Heterozygous Patients who Present a Bleeding Tendency

Girolami,

Minoldo,

Ferrari

et al. 2018

Clin Res Hematol

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Factor X M402T: a homozygous missense mutation identified as the cause of cross-reacting material-reduced deficiency

et al. 2014

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We investigated a mildly hemorrhagic patient with factor X (FX) deficiency to identify the nature of his defect by comprehensive analyses. A 42-year-old Japanese man was admitted to our hospital for uncontrolled gingival hemorrhage. His FX activity based on prothrombin time (PT) and activated partial thromboplastin time (aPTT) and FX antigen were <1, 6.5 and 11 %, respectively. A homozygous M402T missense mutation (c.1205 t>c; p.Met402Thr) was identified in the FX gene (F10) from both the patient and his brother. The mutation was not detected in the F10 of 82 unrelated normal Japanese individuals. We studied the functional consequences of this mutation by expressing mutant FX-M402T protein in HEK293 cells. This analysis revealed that the antigen of the FX-M402T mutants was approximately 26 % that of the wild-type FX in conditioned media. The FX-specific activity of FX-M402T mutants measured by a one-stage clotting assay based upon PT and aPTT, and a chromogenic assay using Russell's viper venom in the concentrated media was 7.7, 31.7, and 41.2 % of wild type, respectively. The results suggest that the mutation FX-M402T may cause a secretion defect and a molecular abnormality in FX.

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