What does this research mean for the field?

Compound heterozygous variants IVS24+3A>T and p.Asp2222Gly in the F5 gene induce hereditary factor V deficiency, with IVS24+3A>T identified as a novel splice-site variant. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

This research aims to investigate the genetic basis of hereditary factor V deficiency in a family with compound heterozygous variants.

April 15, 2026

Genetic Analysis of a Family With Hereditary Factor V Deficiency Induced by Compound Heterozygous Variants (IVS24+3A>T and p.Asp2222Gly)

Key Points

This research aims to investigate the genetic basis of hereditary factor V deficiency in a family with compound heterozygous variants.
Analyzed genetic variants in a family with hereditary factor V deficiency
Identified and described compound heterozygous variants (IVS24+3A>T and p.Asp2222Gly)
Evaluated the impact of these variants on clinical phenotype and function
Two compound heterozygous variants were identified in the F5 gene
IVS24+3A>T is a novel splice-site variant reported for the first time
These genetic alterations contribute to the clinical presentation and functional impact observed.

Abstract

The proband with hereditary factor V deficiency carries compound heterozygous variants, IVS24+3A>T and p.Asp2222Gly, which have led to alterations in clinical phenotype, genotype, and function. The IVS24+3A>T variant in the F5 gene is a novel splice-site variant reported here for the first time.

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Genetic Analysis of a Family With Hereditary Factor V Deficiency Induced by Compound Heterozygous Variants (IVS24+3A>T and p.Asp2222Gly)

Key Points

Abstract

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