A group of scientists from the Rambam Medical Center in Haifa, led by Sharon Bratman-Morag and Karin Weiss, identified a genetic mutation in the TBCB gene (Tubulin Folding Cofactor B), very common in Ashkenazi Jews, which has a link to a type of autism spectrum disorder (ASD).
The same study revealed that 1 in 80 Ashkenazi Jews carries the TBCB gene mutation, and if both parents are carriers, there is a 25% chance that their son or daughter will inherit the mutation and present related symptoms.
The discovery opens up new possibilities for early detection and management of this genetic condition. Following this, the Israeli Ministry of Health included a screening test for this mutation in the national health care basket in November, making it accessible to all couples planning to have children.
In addition to the symptoms of ASD, people with this mutation may develop hereditary spastic paraparesis, a motor disorder that causes muscle stiffness and makes it difficult to walk and maintain balance.