Analysis of the novel factor X gene mutation Glu51Lys in two families with factor X-Riyadh anomaly

Al-Hilali, Akram; Wulff, K.; Abdel‐Razeq, Hikmat; Saud, Khalida Abu; Al-Gaili, Fateh; Herrmann, Falko H.

doi:10.1160/th06-09-0532

Cited by 7 publications

(2 citation statements)

References 8 publications

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“…More than 100 Factor X gene mutations have been recognized, most having missense mutations that result in low levels of Factor X activity [7,8]. Our index case has a homozygous pathogenic variant of missense mutations already described in a Saudi family with "Factor X-Riyadh" deficiency [9].…”

Section: Discussionmentioning

confidence: 73%

Congenital Factor X-Riyadh (Stuart-Prower) Deficiency With Isolated Prothrombin Time Prolongation: A Case Report

Alasmari¹,

Tahaelbashir²,

Alomari³

et al. 2023

Cureus

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Factor X (FX) deficiency is an extremely rare autosomal recessive inherited coagulation defect. We report a case of congenital Factor X-Riyadh deficiency discovered during a routine workup before a dental procedure. During routine work-up for dental surgery, prothrombin time (PT) and the international normalized ratio (INR) were prolonged. The prothrombin time (PT) was found to be 78.4 (normal 11-14 seconds) with an international normalized ratio (INR) of 7.83; the activated partial thromboplastin time (APTT) was 30.7 (normal 25-42 seconds). Specific coagulation factor assays confirmed an FX deficiency (<10 % of normal activity) and a mild factor VII deficiency 37% (normal 48%-124%). Molecular genetic analysis of the whole exome sequence (WES) confirmed the diagnosis of FX deficiency (homozygous pathogenic variant c. 271G>A p {Glu91Lys} chr13:113793685). The patient is currently on regular follow-up and is advised to take oral antifibrinolytic medications for any superficial or mucosal bleeding.

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Section: Discussionmentioning

confidence: 73%

Congenital Factor X-Riyadh (Stuart-Prower) Deficiency With Isolated Prothrombin Time Prolongation: A Case Report

Alasmari¹,

Tahaelbashir²,

Alomari³

et al. 2023

Cureus

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“…Homozygous factor X-deficient knockout micedie in utero or days after birth (1, 2), reflecting the severity of the mutation. Up to now, 102 cases of FXD have beenidentified world-wide (1,3,4), involving 28 homozygous, sevencompound-heterozygous and 67 heterozygous patients presenting with 29 different mutations (1) plus one additional homozygous mutation (Cys364Arg), whichhas been described recently (5).…”

mentioning

confidence: 99%

Report on a disease-adapted treatment in a patient with severe factor X deficiency resulting from a homozygous factor X gene mutation

Gerhardt¹,

Araba²,

Scharf³

et al. 2008

Thromb Haemost

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Congenital factor X deficiencies with a defect only or predominantly in the extrinsic or in the intrinsic system: A critical evaluation

et al. 2008

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Congenital Factor X deficiency is commonly classified as type I, in which there is a concomitant decrease of activity and antigen (CRM negative), and in type II, in which activity is low but antigen is normal or near normal (CRM positive). During the past decades it was shown that type II was by itself very heterogeneous. It was shown in fact that some forms showed a defect in all three assay systems (extrinsic, intrinsic, and RVV dependent), whereas others showed a defect only in two of the three systems. Molecular biology analysis, whenever available, has failed so far to supply clear explanations for these discrepancies. The purpose of the present article was an attempt to correlate the clotting activities seen in these two defects with other clotting, chromogenic, immunological assays, and molecular biology results. There are in the literature 10 families that show a predominant defect in the extrinsic system, and four families that show a predominant defect in the intrinsic system. All patients showed a normal, near normal, or reduced level of antigen that is always definitively higher than the clotting counterpart. Molecular biology studies revealed mutations in different exons, namely 2, 4, 5, 6, and 8. These mutations in different exons do not allow any clear genotypephenotype conclusions, but indicate that mutations in different exons may give rise to the same phenotype. The study underlines the importance of a multipronged evaluation of all cases with Factor X deficiency. In fact only by this approach can an acceptable classification of the defect be reached. Am. J. Hematol. 83:668-671, 2008. V

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Analysis of the novel factor X gene mutation Glu51Lys in two families with factor X-Riyadh anomaly

Cited by 7 publications

References 8 publications

Congenital Factor X-Riyadh (Stuart-Prower) Deficiency With Isolated Prothrombin Time Prolongation: A Case Report

Congenital Factor X-Riyadh (Stuart-Prower) Deficiency With Isolated Prothrombin Time Prolongation: A Case Report

Report on a disease-adapted treatment in a patient with severe factor X deficiency resulting from a homozygous factor X gene mutation

Congenital factor X deficiencies with a defect only or predominantly in the extrinsic or in the intrinsic system: A critical evaluation

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