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

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 analys...

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Autores principales: Gallardo, Christian Aledia, Wong, Lester Jun Long, Sum, Christina Lai Lin, Goh, Liuh Ling, Ong, Kiat Hoe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elmer Press 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8929202/
https://www.ncbi.nlm.nih.gov/pubmed/35356632
http://dx.doi.org/10.14740/jh943
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author Gallardo, Christian Aledia
Wong, Lester Jun Long
Sum, Christina Lai Lin
Goh, Liuh Ling
Ong, Kiat Hoe
author_facet Gallardo, Christian Aledia
Wong, Lester Jun Long
Sum, Christina Lai Lin
Goh, Liuh Ling
Ong, Kiat Hoe
author_sort Gallardo, Christian Aledia
collection PubMed
description 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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spelling pubmed-89292022022-03-29 Compound Heterozygous Factor VII Deficiency c.1025G>A p.(Arg342Gln) With Novel Missense Variant c.194C>G p.(Ala65Gly) Gallardo, Christian Aledia Wong, Lester Jun Long Sum, Christina Lai Lin Goh, Liuh Ling Ong, Kiat Hoe J Hematol Case Report 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. Elmer Press 2022-02 2022-02-26 /pmc/articles/PMC8929202/ /pubmed/35356632 http://dx.doi.org/10.14740/jh943 Text en Copyright 2022, Gallardo et al. https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution Non-Commercial 4.0 International License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Gallardo, Christian Aledia
Wong, Lester Jun Long
Sum, Christina Lai Lin
Goh, Liuh Ling
Ong, Kiat Hoe
Compound Heterozygous Factor VII Deficiency c.1025G>A p.(Arg342Gln) With Novel Missense Variant c.194C>G p.(Ala65Gly)
title Compound Heterozygous Factor VII Deficiency c.1025G>A p.(Arg342Gln) With Novel Missense Variant c.194C>G p.(Ala65Gly)
title_full Compound Heterozygous Factor VII Deficiency c.1025G>A p.(Arg342Gln) With Novel Missense Variant c.194C>G p.(Ala65Gly)
title_fullStr Compound Heterozygous Factor VII Deficiency c.1025G>A p.(Arg342Gln) With Novel Missense Variant c.194C>G p.(Ala65Gly)
title_full_unstemmed Compound Heterozygous Factor VII Deficiency c.1025G>A p.(Arg342Gln) With Novel Missense Variant c.194C>G p.(Ala65Gly)
title_short Compound Heterozygous Factor VII Deficiency c.1025G>A p.(Arg342Gln) With Novel Missense Variant c.194C>G p.(Ala65Gly)
title_sort compound heterozygous factor vii deficiency c.1025g>a p.(arg342gln) with novel missense variant c.194c>g p.(ala65gly)
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8929202/
https://www.ncbi.nlm.nih.gov/pubmed/35356632
http://dx.doi.org/10.14740/jh943
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