Multiple genes that are mutated in individuals with Joubert syndrome have been identified:
- Mutations in a gene of unknown function called AHI1 is associated with a subset of Joubert syndrome cases.
- In some rare cases of Joubert syndrome, mutations have been found in NPHP1 which is also associated with nephronophthisis, a cystic kidney disorder.
- The gene CEP290 has been associated with both Joubert syndrome and Leber's congenital amaurosis, type 10.
Relation to other rare disorders: genetic ciliopathy
Recent findings in genetic research have suggested that a large number of genetic disorders, both genetic syndromes and genetic diseases, that were not previously related in the medical literature, may be highly related in the root cause of the widely-varying set of medical symptoms that are clinically visible in the disorder. Joubert syndrome is one such disease, part of an emerging class of diseases called cilopathies. The underlying cause may be a dysfunctional molecular mechanism in the primary cilia structures of the cell, organelles which are present in many cellular types throughout the human body. The cilia defects adversely affect "numerous critical developmental signaling pathways" essential to cellular development and thus offer a plausible hypothesis for the often multi-symptom nature of a large set of syndromes and diseases. Known ciliopathies include primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration..
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