CONGENITAL FACTOR V DEFICIENCY FROM COMPOUND HETEROZYGOUS MUTATIONS WITH A NOVEL MUTATION C.2426DEL (P.PRO809HISFS*2) IN THE F5 GENE
Author(s): ,
Chang-Hun Park
Affiliations:
Laboratory medicine and genetics,Samsung Changwom Hospital,Changwon,Korea, Republic Of
,
Min-Seung Park
Affiliations:
Laboratory medicine and genetics,Samsung Medical Center,Seoul,Korea, Republic Of
,
Ki-O Lee
Affiliations:
Samsung Biomedical Research Institute,Samsung Medical Center,Seoul,Korea, Republic Of
,
Sun-Hee Kim
Affiliations:
Laboratory medicine and genetics,Samsung Medical Center,Seoul,Korea, Republic Of
,
Young Shil Park
Affiliations:
Pediatrics,Kyung Hee University Hospital at Gangdong,Seoul,Korea, Republic Of
Hee-Jin Kim
Affiliations:
Laboratory medicine and genetics,Samsung Medical Center,Seoul,Korea, Republic Of
EHA Library. Park C. Jun 15, 2019; 266717; PS1100
Dr. Chang-Hun Park
Dr. Chang-Hun Park
Contributions
Abstract

Abstract: PS1100

Type: Poster Presentation

Presentation during EHA24: On Saturday, June 15, 2019 from 17:30 - 19:00

Location: Poster area

Background
Congenital factor V deficiency (FVD) is a rare bleeding disorder characterized by low or undetectable plasma FV levels leading to mild to severe bleeding symptoms. Currently, more than 100 mutations have been reported in F5. The majority of F5 mutations are missense mutations (61.5%), and small deletion and splicing mutations account for 18.5% and 11.9%, respectively.

Aims
 We herein report a patient with FVD from compound heterozygous mutations including a novel deleterious mutation.

Methods
The patient was a 52-year-old man with prolonged PT and aPTT corrected by mixing test on preoperative screening. His past medical or family history was not remarkable. Factor assays revealed a markedly reduced FV activity at 7%. Other factors were not decreased. DNA sequencing analysis to detect F5 gene mutations was performed after obtaining written informed consent.

Results
Two different heterozygous mutations in F5 were detected: a missense variant (c.286G>C [p.Asp96His]) and a frameshift variant from small deletion (c.2426del [p.Pro809Hisfs*2]). The Asp96His was previously described missense mutation and Pro809Hisfs*2 was a novel deleterious mutation.

Conclusion
We herein report an asymptomatic patient with FVD from compound heterozygous mutations of F5 including a novel frameshift mutation. As was the case in our patient, genotype-phenotype correlations are poor in FVD, and molecular genetic test is necessary to confirm the diagnosis.

Session topic: 33. Bleeding disorders (congenital and acquired)

Keyword(s): Coagulopathy, Genetic, Mutation

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