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Homozygous factor V splice site mutation associated with severe factor V deficiency
Iris Schrijver1, Marion A Koerper, Carol D Jones
1Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA.
Blood
|April 4, 2002
Summary
A novel mutation in the factor V gene causes a severe bleeding disorder due to a homozygous splice site mutation. This genetic finding provides new insights into factor V deficiency.
Area of Science:
- Genetics
- Hematology
Background:
- Factor V deficiency is a rare inherited bleeding disorder.
- Mutations in the factor V gene are infrequently identified.
Observation:
- A patient presented with severe bleeding and significantly reduced factor V levels.
- Molecular analysis identified a novel homozygous mutation (1701G>T) in the factor V gene.
Findings:
- The mutation activates a cryptic splice site in exon 10, leading to a frameshift and premature stop codon.
- This results in a truncated factor V protein, likely causing the severe bleeding phenotype.
Implications:
- This is the first reported homozygous splice site mutation causing factor V deficiency.
- Understanding novel mutations aids in diagnosing and potentially treating factor V deficiency.