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Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.

Joubert syndrome (JS) and related disorders are a group of autosomal-recessive conditions sharing the "molar tooth sign" on axial brain MRI, together with cerebellar vermis hypoplasia, ataxia, and psychomotor delay. JS is suggested to be a disorder of cilia function and is part of a spectrum of disorders involving retinal, renal, digital, oral, hepatic, and cerebral organs. We identified mutations in ARL13B in two families with the classical form of JS. ARL13B belongs to the Ras GTPase family, and in other species is required for ciliogenesis, body axis formation, and renal function. The encoded Arl13b protein was expressed in developing murine cerebellum and localized to the cilia in primary neurons. Overexpression of human wild-type but not patient mutant ARL13B rescued the Arl13b scorpion zebrafish mutant. Thus, ARL13B has an evolutionarily conserved role mediating cilia function in multiple organs.

Pubmed ID: 18674751


  • Cantagrel V
  • Silhavy JL
  • Bielas SL
  • Swistun D
  • Marsh SE
  • Bertrand JY
  • Audollent S
  • AttiĆ©-Bitach T
  • Holden KR
  • Dobyns WB
  • Traver D
  • Al-Gazali L
  • Ali BR
  • Lindner TH
  • Caspary T
  • Otto EA
  • Hildebrandt F
  • Glass IA
  • Logan CV
  • Johnson CA
  • Bennett C
  • Brancati F
  • International Joubert Syndrome Related Disorders Study Group
  • Valente EM
  • Woods CG
  • Gleeson JG


American journal of human genetics

Publication Data

August 5, 2008

Associated Grants

  • Agency: Medical Research Council, Id: G0700073
  • Agency: NHGRI NIH HHS, Id: N01-HG-65403
  • Agency: NINDS NIH HHS, Id: P30 NS047101
  • Agency: NINDS NIH HHS, Id: R01 NS052455
  • Agency: NIDDK NIH HHS, Id: R01-DK064614
  • Agency: NIDDK NIH HHS, Id: R01-DK068306
  • Agency: NIDDK NIH HHS, Id: R01-DK069272
  • Agency: NIA NIH HHS, Id: T32 AG00216
  • Agency: Howard Hughes Medical Institute, Id:

Mesh Terms

  • ADP-Ribosylation Factors
  • Abnormalities, Multiple
  • Animals
  • Brain Diseases
  • Chromosome Mapping
  • Cilia
  • Computational Biology
  • Conserved Sequence
  • Genetic Predisposition to Disease
  • Humans
  • Molecular Sequence Data
  • Mutation
  • Neurons
  • Syndrome
  • Zebrafish