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

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  • 1. Istituto di Ricovero e Cura a Carattere Scientifico, Casa Sollievo della Sofferenza, Mendel Institute, viale Regina Margherita 261, 00198 Rome, Italy.
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    • Valente EM 1
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Nature Genetics, 07 May 2006, 38(6):623-625
https://doi.org/10.1038/ng1805 PMID: 16682970 

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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NINDS NIH HHS (1)