Hunainalmost 2 years ago

Causes of joubert syndrome

Joubert syndrome is caused by mutations in 35 or more genes. It can be inherited within families or happen by chance (with no known family link). The genetic mutations cause cilia to form incorrectly. Cilia are like tiny antennas on cells that help them communicate with each other. They help organs develop and function. Joubert syndrome is in a group of disorders called “ciliopathies.” Researchers are still trying to understand how the abnormal cilia cause the specific developmental problems in Joubert syndrome.