2006
DOI: 10.1038/ng1805
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Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Abstract: Joubert syndrome-related disorders (JSRD) are a group of syndromes sharing the neuroradiological features of cerebellar vermis hypoplasia and a peculiar brainstem malformation known as the 'molar tooth sign'. We identified mutations in the CEP290 gene in five families with variable neurological, retinal and renal manifestations. CEP290 expression was detected mostly in proliferating cerebellar granule neuron populations and showed centrosome and ciliary localization, linking JSRDs to other human ciliopathies.

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Cited by 363 publications
(318 citation statements)
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“…Each of the genes encodes a modular scaffolding protein without clear enzymatic domains, but sharing several protein-interaction domains of unknown function, suggesting that they may be part of a signaling complex [28][29][30][31][32][33][34][35][36] The Joubert syndrome connection with cilia Although the function of JSRD proteins remains largely unknown, recent evidence suggests roles in either mediating the assembly/stability of cilia or mediating cargo transport within cilia. When tested directly, at least three of the encoded proteins, NPHP1, CEP290 and RPGRIP1L have demonstrated localization to the basal body or cilium [32,[35][36][37], further suggesting a role at the cilium or basal body. Remarkably, CEP290 was concurrently identified as mutated in the rd16 mouse [38] and rdAc cat [39] both models of retinal dystrophy.…”
Section: Joubert Syndrome and Related Disordersmentioning
confidence: 99%
“…Each of the genes encodes a modular scaffolding protein without clear enzymatic domains, but sharing several protein-interaction domains of unknown function, suggesting that they may be part of a signaling complex [28][29][30][31][32][33][34][35][36] The Joubert syndrome connection with cilia Although the function of JSRD proteins remains largely unknown, recent evidence suggests roles in either mediating the assembly/stability of cilia or mediating cargo transport within cilia. When tested directly, at least three of the encoded proteins, NPHP1, CEP290 and RPGRIP1L have demonstrated localization to the basal body or cilium [32,[35][36][37], further suggesting a role at the cilium or basal body. Remarkably, CEP290 was concurrently identified as mutated in the rd16 mouse [38] and rdAc cat [39] both models of retinal dystrophy.…”
Section: Joubert Syndrome and Related Disordersmentioning
confidence: 99%
“…The gene product localizes to renal cilia and to the photoreceptor connecting cilium/transitional zone (9), and is required for early cilia assembly and ciliogenesis (13,14). Additionally, NPHP5 interacts with several proteins responsible for X-linked retinitis pigmentosa (RPGR) (15), LCA, SLSN or Joubert syndrome (CEP290) (10,16,17) and the BBSome subunits that have been implicated in Bardet Biedl Syndrome (18,19). The close interaction of these ciliary proteins, and the overlapping phenotypes observed when defective, suggests that they may function in the same or common pathways.…”
Section: Introductionmentioning
confidence: 99%
“…Studies on Joubert Syndrome, a group of recessively inherited conditions characterized by congenital ataxia, hypotonia, episodic breathing, mental retardation, and specific malformations of the brainstem, cerebellum, and peduncles, have led to the discovery of several mutations. The involved genes, including AHI1, NPHP1, CEP290, MKS3, and RPGR1L, are responsible for encoding cilia-like functioning and modular scaffolding proteins [6][7][8][9][10][11][12][13][14][15][16][17].…”
Section: Introductionmentioning
confidence: 99%