So far thirteen families have been reported with Joubert syndrome 30, with fifteen homozygous (same genetic defect in both parents) or compound heterozygous (different genetic changes in both parents) variants in ARMC9 were reported to cause Joubert Syndrome 30.
Functional studies indicate that these changes in ARMC9 lead to production of defective ARMC9 protein which is not able to perform its natural function and thus leads to disease.
ARMC9