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

Overview

Journal J Hematol

Specialty Hematology

Date 2022 Mar 31

PMID 35356632

Authors

Christian Aledia Gallardo

Lester Jun Long Wong

Christina Lai Lin Sum

Liuh Ling Goh

Kiat Hoe Ong

Affiliations

Soon will be listed here.

Abstract

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 gene. To date, p.Ala65Gly in exon 2 of the 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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