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. 2006 Jun;38(6):623-5.
doi: 10.1038/ng1805. Epub 2006 May 7.

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Enza Maria Valente  1 , Jennifer L Silhavy, Francesco Brancati, Giuseppe Barrano, Suguna Rani Krishnaswami, Marco Castori, Madeline A Lancaster, Eugen Boltshauser, Loredana Boccone, Lihadh Al-Gazali, Elisa Fazzi, Sabrina Signorini, Carrie M Louie, Emanuele Bellacchio; International Joubert Syndrome Related Disorders Study Group; Enrico Bertini, Bruno Dallapiccola, Joseph G Gleeson
Affiliations

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Enza Maria Valente et al. Nat Genet. 2006 Jun.

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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