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

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

doi:10.1038/ng1805

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

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

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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.

Original language	English
Pages (from-to)	623-625
Number of pages	3
Journal	Nature Genetics
Volume	38
Issue number	6
DOIs	https://doi.org/10.1038/ng1805
Publication status	Published - Jun 2006

ASJC Scopus subject areas

Genetics

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Valente, E. M., Silhavy, J. L., Brancati, F., Barrano, G., Krishnaswami, S. R., Castori, M., Lancaster, M. A., Boltshauser, E., Boccone, L., Al-Gazali, L., Fazzi, E., Signorini, S., Louie, C. M., Bellacchio, E., Bertini, E., Dallapiccola, B., & Gleeson, J. G. (2006). Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nature Genetics, 38(6), 623-625. https://doi.org/10.1038/ng1805

Valente, EM, Silhavy, JL, Brancati, F, Barrano, G, Krishnaswami, SR, Castori, M, Lancaster, MA, Boltshauser, E, Boccone, L, Al-Gazali, L, Fazzi, E, Signorini, S, Louie, CM, Bellacchio, E, Bertini, E, Dallapiccola, B & Gleeson, JG 2006, 'Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome', Nature Genetics, vol. 38, no. 6, pp. 623-625. https://doi.org/10.1038/ng1805

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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.",

author = "Valente, {Enza Maria} and Silhavy, {Jennifer L.} and Francesco Brancati and Giuseppe Barrano and Krishnaswami, {Suguna Rani} and Marco Castori and Lancaster, {Madeline A.} and Eugen Boltshauser and Loredana Boccone and Lihadh Al-Gazali and Elisa Fazzi and Sabrina Signorini and Louie, {Carrie M.} and Emanuele Bellacchio and Enrico Bertini and Bruno Dallapiccola and Gleeson, {Joseph G.}",

note = "Funding Information: We thank the Marshfield Clinic Research Foundation and the US National Heart, Lung, and Blood Institute for genotyping support. We also thank C. Uggetti (Pediatric Neuroradiology, IRCCS {\textquoteleft}C. Mondino Foundation{\textquoteright}, University of Pavia) for her contribution in reviewing MRIs of selected patients. We received help with imaging from B. Brinkman and the University of California, San Diego Neuroscience Microscopy Core and help with in situ hybridization from W. Books in the Hamilton laboratory. This work was supported by grants from the US National Institute of Neurological Disease and Stroke, the Italian Ministry of Health (Ricerca Corrente 2006; Ricerca Finalizzata 2005 Progetto Malattie Rare, Conv. 526/A36), the Fondazione Pierfranco e Luisa Mariani ONLUS, the March of Dimes, the Simons Foundation and the Burroughs Wellcome Fund Award in Translational Research.",

year = "2006",

month = jun,

doi = "10.1038/ng1805",

language = "English",

volume = "38",

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T1 - Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

AU - Valente, Enza Maria

AU - Silhavy, Jennifer L.

AU - Brancati, Francesco

AU - Barrano, Giuseppe

AU - Krishnaswami, Suguna Rani

AU - Castori, Marco

AU - Lancaster, Madeline A.

AU - Boltshauser, Eugen

AU - Boccone, Loredana

AU - Al-Gazali, Lihadh

AU - Fazzi, Elisa

AU - Signorini, Sabrina

AU - Louie, Carrie M.

AU - Bellacchio, Emanuele

AU - Bertini, Enrico

AU - Dallapiccola, Bruno

AU - Gleeson, Joseph G.

N1 - Funding Information: We thank the Marshfield Clinic Research Foundation and the US National Heart, Lung, and Blood Institute for genotyping support. We also thank C. Uggetti (Pediatric Neuroradiology, IRCCS ‘C. Mondino Foundation’, University of Pavia) for her contribution in reviewing MRIs of selected patients. We received help with imaging from B. Brinkman and the University of California, San Diego Neuroscience Microscopy Core and help with in situ hybridization from W. Books in the Hamilton laboratory. This work was supported by grants from the US National Institute of Neurological Disease and Stroke, the Italian Ministry of Health (Ricerca Corrente 2006; Ricerca Finalizzata 2005 Progetto Malattie Rare, Conv. 526/A36), the Fondazione Pierfranco e Luisa Mariani ONLUS, the March of Dimes, the Simons Foundation and the Burroughs Wellcome Fund Award in Translational Research.

PY - 2006/6

Y1 - 2006/6

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

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