title: 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.
authors: Istituto di Ricovero e Cura a Carattere Scientifico, Casa Sollievo della Sofferenza, Mendel Institute, viale Regina Margherita 261, 00198 Rome, Italy. e.valente@css-mendel.it
authors: Enza Maria
authors: EM
authors: Valente
authors: Jennifer L
authors: JL
authors: Silhavy
authors: Francesco
authors: F
authors: Brancati
authors: Giuseppe
authors: G
authors: Barrano
authors: Suguna Rani
authors: SR
authors: Krishnaswami
authors: Marco
authors: M
authors: Castori
authors: Madeline A
authors: MA
authors: Lancaster
authors: Eugen
authors: E
authors: Boltshauser
authors: Loredana
authors: L
authors: Boccone
authors: Lihadh
authors: L
authors: Al-Gazali
authors: Elisa
authors: E
authors: Fazzi
authors: Sabrina
authors: S
authors: Signorini
authors: Carrie M
authors: CM
authors: Louie
authors: Emanuele
authors: E
authors: Bellacchio
authors: Enrico
authors: E
authors: Bertini
authors: Bruno
authors: B
authors: Dallapiccola
authors: Joseph G
authors: JG
authors: Gleeson