Currarino syndrome is caused by mutations in the MNX1 gene, located on chromosome 7. This gene provides instructions for making a protein that plays a role in the development of the spine, anus, and intestines.
Mutations in the MNX1 gene disrupt these processes, leading to the characteristic features of Currarino syndrome, which include:
- Sacral agenesis: A malformation of the sacrum, the bone at the base of the spine.
- Presacral mass: A tumor-like mass in front of the sacrum.
- Anorectal malformation: A condition that affects the rectum and anus, leading to difficulties with bowel movements.
Currarino syndrome is an inherited condition, meaning it can be passed down from parents to their children. However, it can also occur spontaneously due to a new mutation in the MNX1 gene.
