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.
Valente
Enza Maria
EM
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
Silhavy
Jennifer L
JL
Brancati
Francesco
F
Barrano
Giuseppe
G
Krishnaswami
Suguna Rani
SR
Castori
Marco
M
Lancaster
Madeline A
MA
Boltshauser
Eugen
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Boccone
Loredana
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Al-Gazali
Lihadh
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Fazzi
Elisa
E
Signorini
Sabrina
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Louie
Carrie M
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Bellacchio
Emanuele
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Bertini
Enrico
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Dallapiccola
Bruno
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Gleeson
Joseph G
JG