Is Protein C Deficiency Genetic?
Yes, protein C deficiency is genetic.
Protein C deficiency is a condition that increases the risk of developing blood clots (thrombosis). It is primarily caused by changes in the PROC gene.
Based on the provided information:
- Protein C deficiency is inherited in an autosomal dominant pattern.
- This inheritance pattern means that one altered copy of the PROC gene in each cell is sufficient to cause mild protein C deficiency.
This clearly indicates that the condition is passed down through families via genetic inheritance.
How Autosomal Dominant Inheritance Works
In autosomal dominant inheritance:
- The altered gene is located on one of the autosomes (chromosomes 1-22), not the sex chromosomes (X or Y).
- Only one copy of the altered gene is needed to express the trait or condition.
- A person with an autosomal dominant condition has a 50% chance of passing the altered gene (and therefore the condition) to each of their children.
This explains why mild protein C deficiency can occur even with just one copy of the gene altered. More severe forms, though less common, can sometimes occur when both copies of the PROC gene are altered (this is often considered a homozygous or compound heterozygous state, which can lead to a much more severe, often neonatal, presentation).
Key Takeaways
- Genetic Basis: Protein C deficiency stems from variations in the PROC gene.
- Inheritance Pattern: It is typically inherited in an autosomal dominant manner.
- Gene Copy Impact: A single altered copy of the gene is enough to cause the mild form of the deficiency.
This genetic inheritance pattern means that family history is a crucial factor in identifying individuals at risk for protein C deficiency.
