Nature Genetics 38, 623 - 625 (2006)
Published online: 7 May 2006; | doi:10.1038/ng1805
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndromeEnza Maria Valente1, 11, Jennifer L Silhavy2, 11, Francesco Brancati1, 3, 4, Giuseppe Barrano1, 5, Suguna Rani Krishnaswami2, Marco Castori1, 5, Madeline A Lancaster2, Eugen Boltshauser6, Loredana Boccone7, Lihadh Al-Gazali8, Elisa Fazzi9, Sabrina Signorini9, Carrie M Louie2, Emanuele Bellacchio1, International Joubert Syndrome Related Disorders Study Group, Enrico Bertini10, Bruno Dallapiccola1, 5
& Joseph G Gleeson21
Istituto di Ricovero e Cura a Carattere Scientifico, Casa Sollievo della Sofferenza, Mendel Institute, viale Regina Margherita 261, 00198 Rome, Italy. 2
Laboratory of Neurogenetics, Department of Neurosciences, University of California, San Diego, Leichtag 332, 9500 Gilman Drive, La Jolla, California 92093-0691, USA. 3
Department of Biomedical Sciences, G. D'Annunzio University, Via dei Vestini 31, 66013 Chieti, Italy. 4
Aging Research Center, Ce.S.I., G. D'Annunzio University Foundation, Via Colle dell'Ara, 66013 Chieti, Italy. 5
Department of Experimental Medicine and Pathology, La Sapienza University, viale Regina Elena 324, 00187 Rome, Italy. 6
Department of Neurology, Children's University Hospital, Steinwiesstrasse 75, 8032 Zurich, Switzerland. 7
Ospedale Microcitemico, 09120 Cagliari, Italy. 8
Department of Pediatrics, Faculty of Medicine and Health Sciences, United Emirates University, PO Box 17666, Al Ain, United Arab Emirates. 9
Department of Child Neurology and Psychiatry, IRCCS 'C. Mondino Foundation', University of Pavia, 27100 Pavia, Italy. 10
Molecular Medicine Unit, Department of Laboratory Medicine, Bambino Gesù Hospital IRCCS, Piazza S. Onofrio, 4, 00165 Rome, Italy. 11
These authors contributed equally to this work.
Correspondence should be addressed to Joseph G Gleeson jogleeson@ucsd.edu or Enza Maria Valente e.valente@css-mendel.it 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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