RGD Reference Report - Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. - Rat Genome Database

Send us a Message

Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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

Authors: Cantagrel, V  Silhavy, JL  Bielas, SL  Swistun, D  Marsh, SE  Bertrand, JY  Audollent, S  Attie-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  Valente, EM  Woods, CG  Gleeson, JG  Gleeson, JG 
Citation: Cantagrel V, etal., Am J Hum Genet. 2008 Aug;83(2):170-9. doi: 10.1016/j.ajhg.2008.06.023.
RGD ID: 11553937
Pubmed: (View Article at PubMed) PMID:18674751
DOI: Full-text: DOI:10.1016/j.ajhg.2008.06.023

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.

Disease Annotations    
Joubert syndrome 8  (IAGP,ISO)

Phenotype Annotations    

Human Phenotype
Objects Annotated

Genes (Rattus norvegicus)
Arl13b  (ADP-ribosylation factor like GTPase 13B)

Genes (Mus musculus)
Arl13b  (ADP-ribosylation factor-like 13B)

Genes (Homo sapiens)
ARL13B  (ADP ribosylation factor like GTPase 13B)

Additional Information