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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Expanding CEP290 mutational spectrumin ciliopathies
American Journal of Medical Genetics, Part A, Volume 149, No. 10, Year 2009
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Description
Ciliopathies are an expanding group of rare conditions characterized by multiorgan involvement, that are caused by mutations in genes encoding for proteins of the primary cilium or its apparatus. Among these genes, CEP290 bears an intriguing allelic spectrum, being commonly mutated in Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS), Senior-Loken syndrome and isolated Leber congenital amaurosis (LCA). Although these conditions are recessively inherited, in a subset of patients only one CEP290 mutation could be detected. To assess whether genomic rearrangements involving the CEP290 gene could represent a possible mutational mechanism in these cases, exon dosage analysis on genomic DNA was performed in two groups of CEP290 heterozygous patients, including five JSRD/ MKS cases and four LCA, respectively. In one JSRD patient, we identified a large heterozygous deletion encompassing CEP290 C -terminus that resulted in marked reduction of mRNA expression. No copy number alterations were identified in the remaining probands. The present work expands the CEP290 genotypic spectrum to include multiexon deletions. Although this mechanism does not appear to be frequent, screening for genomic rearrangements should be considered in patients in whom a single CEP290 mutated allele was identified. © 2009 Wiley-Liss, Inc.
Authors & Co-Authors
Travaglini, Lorena
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Italy, Rome
Sapienza Università Di Roma
Brancati, Francesco
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Italy, Chieti
University of G. D'annunzio Chieti and Pescara
Attié-Bitach, Tania
France, Paris
Université Paris Cité
France, Paris
Inserm
Audollent, Sophie
France, Paris
Université Paris Cité
Bertini, Enrico Silvio
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Kaplan, Josseline C.
France, Paris
Inserm
Perrault, Isabelle
France, Paris
Inserm
Iannicelli, Miriam
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Italy, Rome
Sapienza Università Di Roma
Rigoli, Luciana Concetta
Italy, Messina
Università Degli Studi Di Messina
Rozet, Jean Michel
France, Paris
Inserm
Swistun, Dominika
United States, Chevy Chase
Howard Hughes Medical Institute
Tolentino, Jerlyn C.
United States, Chevy Chase
Howard Hughes Medical Institute
Dallapiccola, Bruno
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Italy, Rome
Sapienza Università Di Roma
Gleeson, Joseph G.
United States, Chevy Chase
Howard Hughes Medical Institute
Valente, Enza Maria
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Italy, Messina
Università Degli Studi Di Messina
Zankl, Andreas
Unknown Affiliation
Leventer, Richard Jacob
Unknown Affiliation
Grattan-Smith, Padraic J.
Unknown Affiliation
Janecke, Andreas Robert
Unknown Affiliation
D'Hooghe, Marc
Unknown Affiliation
Sznajer, Yves
Unknown Affiliation
van Coster, Rudy N.A.
Unknown Affiliation
Demerleir, L.
Unknown Affiliation
Dias, Kátia Regina Hostílio Cervantes
Unknown Affiliation
Moco, Carla
Unknown Affiliation
Moreira, Ana Sofia Cordeiro
Unknown Affiliation
Kim, Chong Ae
Unknown Affiliation
Maegawa, Gustavohenrique
Unknown Affiliation
Petkovic, Djuro
Unknown Affiliation
Abdel-Salam, Ghada M.H.
Unknown Affiliation
Abdel Aleem, Alice K.
Unknown Affiliation
Zaki, Maha S.
Unknown Affiliation
Martí-Carrera, Itxaso
Unknown Affiliation
Quijano-Roy, Susana
Unknown Affiliation
Sigaudy, Sabine
Unknown Affiliation
de Lonlay, Pascale D.
Unknown Affiliation
Romano, Stéphane
Unknown Affiliation
Touraine, Renaud Laurian
Unknown Affiliation
Kœnig, Michel
Unknown Affiliation
Lagier-Tourenne, Clotilde
Unknown Affiliation
Messer, Jean
Unknown Affiliation
Collignon, Patrick
Unknown Affiliation
Wolf, Nicole I.
Unknown Affiliation
Philippi, Heike
Unknown Affiliation
Kitsiou-Tzeli, Sofia
Unknown Affiliation
Halldorsson, Saevar
Unknown Affiliation
Johannsdottir, Jonina Th
Unknown Affiliation
Lúdvígsson, Pétur
Unknown Affiliation
Phadke, Shubha R.
Unknown Affiliation
Udani, V.
Unknown Affiliation
Stuart, Bernard J.
Unknown Affiliation
Magee, Alex C.
Unknown Affiliation
Lev, Dorit Leshem
Unknown Affiliation
Michelson, Marina
Unknown Affiliation
Ben-Zeev, Bruria
Unknown Affiliation
Fischetto, Rita
Unknown Affiliation
Benedicenti, Francesco
Unknown Affiliation
Stanzial, Franco
Unknown Affiliation
Borgatti, Renato
Unknown Affiliation
Accorsi, Patrizia
Unknown Affiliation
Battaglia, Silvia
Unknown Affiliation
Fazzi, Elisa Maria
Unknown Affiliation
Giordano, Lucio
Unknown Affiliation
Pinelli, Lorenzo
Unknown Affiliation
Boccone, Loredana
Unknown Affiliation
Bigoni, Stefania
Unknown Affiliation
Ferlini, Alessandra
Unknown Affiliation
Donati, Maria Alice
Unknown Affiliation
Caridi, Gianluca
Unknown Affiliation
Divizia, Maria Teresa
Unknown Affiliation
Faravelli, Francesca
Unknown Affiliation
Ghiggeri, G. M.
Unknown Affiliation
Briuglia, Silvana
Unknown Affiliation
Salpietro, D. C.
Unknown Affiliation
Tortorella, Gaetano
Unknown Affiliation
Riva, Daria
Unknown Affiliation
Spaccini, Luigina
Unknown Affiliation
Uziel, Graziella
Unknown Affiliation
Del Giudice, Ennio
Unknown Affiliation
Ludwig, Kathrin
Unknown Affiliation
Permunian, Alberto
Unknown Affiliation
Suppiej, Agnese
Unknown Affiliation
Signorini, Sabrina Giovanna
Unknown Affiliation
Battini, Roberta
Unknown Affiliation
Di Giacomo, Marilena Carmela
Unknown Affiliation
Cilio, Maria Roberta
Unknown Affiliation
Di Sabato, Marilù Lucia
Unknown Affiliation
Leuzzi, Vincenzo
Unknown Affiliation
Parisi, Pasquale
Unknown Affiliation
Pollazzon, Marzia
Unknown Affiliation
Silengo, Margherita Cirillo
Unknown Affiliation
Romano, Corrado
Unknown Affiliation
Simonati, Alessandro
Unknown Affiliation
Al-Tawari, Asma A.
Unknown Affiliation
Bastaki, Lailá A.
Unknown Affiliation
Megarbane, Andre
Unknown Affiliation
de Jong, Mirjam M.
Unknown Affiliation
Strömme, Petter
Unknown Affiliation
Koul, Roshan Lal
Unknown Affiliation
Rajab, Anna A.
Unknown Affiliation
Azam, Matloob
Unknown Affiliation
Barbot, Clara
Unknown Affiliation
Rodríguez, Berta
Unknown Affiliation
Pascual-Castroviejo, Ignacio
Unknown Affiliation
Anlar, Banu
Unknown Affiliation
Karaca, Ender
Unknown Affiliation
Kayserili, Hülya U.
Unknown Affiliation
Yüksel, Adnan
Unknown Affiliation
Al-Gazali, Lihadh I.
Unknown Affiliation
Sztriha, László
Unknown Affiliation
Woods, Christopher Geoffrey
Unknown Affiliation
Bennett, Christopher P.
Unknown Affiliation
Hurst, Jane A.
Unknown Affiliation
Sheridan, Eamonn G.
Unknown Affiliation
Hennekam, Raoul C.M.
Unknown Affiliation
Lees, Melissa M.
Unknown Affiliation
Blair, Edward M.
Unknown Affiliation
Sanchez, Henry
Unknown Affiliation
Donahue, Clement
Unknown Affiliation
Sherr, Elliott H.
Unknown Affiliation
Dobyns, William B.
Unknown Affiliation
Krishnamoorthy, Kalpathy S.
Unknown Affiliation
Sarco, Dean P.
Unknown Affiliation
Walsh, Christopher A.
Unknown Affiliation
McKanna, Trudy A.
Unknown Affiliation
Chung, Wendy K.
Unknown Affiliation
Raynes, Hillary R.
Unknown Affiliation
Goldstein, Amy C.
Unknown Affiliation
Holden, Kenton R.
Unknown Affiliation
Cruse, Robert P.
Unknown Affiliation
Swoboda, Kathryn J.
Unknown Affiliation
Viskochil, David H.
Unknown Affiliation
Statistics
Citations: 42
Authors: 132
Affiliations: 8
Identifiers
Doi:
10.1002/ajmg.a.33025
ISSN:
15524833
Research Areas
Cancer
Genetics And Genomics
Health System And Policy