Joubert Syndrome - Genetics

Genetics

Multiple genes that are mutated in individuals with Joubert syndrome have been identified:

• JBTS3: Mutations in a gene of unknown function called AHI1 is associated with a subset of Joubert syndrome cases.

• JBTS4: In some rare cases of Joubert syndrome, mutations have been found in NPHP1 which is also associated with nephronophthisis, a cystic kidney disorder.

• JBTS5: The gene CEP290 has been associated with both Joubert syndrome and Leber's congenital amaurosis, type 10.

• TCTN2 and ATXN10 have been associated with Joubert syndrome.

• TMEM138 has been associated with Joubert syndrome.

• TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.

• CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.

• Mutations in the OFD1 gene can also cause several other disorders with features that overlap with those of oral-facial-digital syndrome. At least two mutations have been identified in people with Joubert syndrome.