Key points
- In 2011, the Marchuk lab at Duke University discovered that seven unrelated United States families of Ashkenazi heritage shared the same mutation in the CCM2 gene (CCM2 c.30+5_30+6delinsTT).
- The Marchuk lab confirmed that the CCM2 c.30_5_30+6delinsTT mutation causes the CCM2 gene to stop functioning (PMID: 21543988).
This change has been observed only among individuals of Jewish Ashkenazi descent, suggesting it is a founder mutation. A founder mutation means that families with this specific CCM2 gene variant share a common ancestor and are distantly related.
Updated 3.14.2026.
