Compound Heterozygous Factor VII Deficiency c.1025G>A p.(Arg342Gln) With Novel Missense Variant c.194C>G p.(Ala65Gly)

被引：1
作者：
Gallardo, Christian Aledia [1 ,2 ,3 ]
Wong, Lester Jun Long [1 ]
Sum, Christina Lai Lin [4 ]
Goh, Liuh Ling [5 ]
Ong, Kiat Hoe [1 ,2 ,3 ,4 ,5 ]
机构：
[1] Tan Tock Seng Hosp, Dept Haematol, Singapore, Singapore
[2] Nanyang Technol Univ, Lee Kong Chian Sch Med, Singapore, Singapore
[3] Natl Univ Singapore, Yong Loo Lin Sch Med, Singapore, Singapore
[4] Tan Tock Seng Hosp, Dept Lab Med, Singapore, Singapore
[5] Tan Tock Seng Hosp, Mol Diagnost Lab, Singapore, Singapore
来源：
JOURNAL OF HEMATOLOGY | 2022年 / 11卷 / 01期
关键词：
Factor VII deficiency; Prothrombin time; Thromboplastin; Mutation missense; Genetics; JOINT-CONSENSUS-RECOMMENDATION; COAGULATION DISORDER; SEQUENCE VARIANTS; TISSUE FACTOR; ASSOCIATION; GUIDELINES; STANDARDS; DIAGNOSIS; COLLEGE; PADUA;
D O I：
10.14740/jh943
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Factor VII (FVII) deficiency manifests as prolonged prothrombin time (PT) and reduced FVII activity. We report a case of an asymptomatic 60-year-old gentleman with discrepancies in PT and FVII coagulant activity levels (FVII:C) on three different thromboplastin reagents used. Further sequence analysis on genomic DNA showed double heterozygosity for c.1025G>A p.Arg342Gln and c.194C>G p.Ala65Gly in the F7 gene. To date, p.Ala65Gly in exon 2 of the F7 gene represents a novel variant in patients with FVII deficiency and is classified as likely pathogenic. Computational prediction tools support a deleterious effect on the gene. The genotype-phenotype association and the clinical significance of this exon 2 missense variant is proposed in this case report.
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页码：29 / 33
页数：5
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