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

18Joubert 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.reservedmixedVALENTE EM; SILHAVY JL; BRANCATI F; BARRANO G; KRISHNASWAMI SR; CASTORI M; LANCASTER MA; BOLTSHAUSER E; BOCCONE L; AL-GAZALI L; E. FAZZI; SIGNORINI S; LOUIE CM; BELLACCHIO E; INTERNATIONAL JOUBERT SYNDROME RELATED DISORDERS STUDY GROUP; BERTINI E; DALLAPICCOLA B; GLEESON JGValente, Em; Silhavy, Jl; Brancati, F; Barrano, G; Krishnaswami, Sr; Castori, M; Lancaster, Ma; Boltshauser, E; Boccone, L; AL GAZALI, L; Fazzi, Elisa Maria; Signorini, S; Louie, Cm; Bellacchio, E; INTERNATIONAL JOUBERT SYNDROME RELATED DISORDERS STUDY, Group; Bertini, E; Dallapiccola, B; Gleeson, J

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

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