Molecular characteristics

What is known about the DHX30 gene and the types of changes that alter this gene function?

DHX30 plays an important role in the development of the brain and other organs.

Mutations in DHX30 gene are thought to cause loss or impaired function of the DHX30 protein.

Thus far, all of the mutations in the DHX30 gene found in humans have arisen spontaneously. In other words, they were not inherited from a parent. The chance of recurrence for future pregnancies of parents is considered low (probably <1%).

Patients with a DHX30 gene mutation have not been known to have children. However, patients have a 50% probability of transmitting the mutation.