CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

Francesco Brancati, Giuseppe Barrano, Jennifer L. Silhavy, Sarah E. Marsh, Lorena Travaglini, Stephanie L. Bielas, Maria Amorini, Dominika Zablocka, Hulya Kayserili, Lihadh Al-Gazali, Enrico Bertini, Eugen Boltshauser, Marc D'Hooghe, Elisa Fazzi, Elif Y. Fenerci, Raoul C.M. Hennekam, Andrea Kiss, Melissa M. Lees, Elysa Marco, Shubha R. PhadkeLuciana Rigoli, Stephane Romano, Carmelo D. Salpietro, Elliott H. Sherr, Sabrina Signorini, Petter Stromme, Bernard Stuart, Laszlo Sztriha, David H. Viskochil, Adnan Yuksel, Bruno Dallapiccola, Enza Maria Valente, Joseph G. Gleeson, Padraic Grattan-Smith, Richard Leventer, Andreas Janecke, Rudy Van Coster, Karin Dias, Carla Moco, Ana Moreira, Ae Kim Chong, Gustavo Maegawa, Ghada M.H. Abdel-Salam, Alice Abdel-Aleem, Maha S. Zaki, Itxaso Marti, Susana Quijano-Roy, Pascale De Lonlay, Alain Verloes, Renaud Touraine, Michel Koenig, Clotilde Lagier-Tourenne, Jean Messer, Heike Philippi, Sofia Kitsiou Tzeli, Saevar Halldorsson, Jonina Johannsdottir, Peter Ludvigsson, Alex Magee, Dorit Lev, Marina Michelson, Bruria Ben-Zeev, Rita Fischetto, Mattia Gentile, Silvia Battaglia, Lucio Giordano, Loredana Boccone, Martino Ruggieri, Stefania Bigoni, Alessandra Ferlini, Maria Alice Donati, Elena Procopio, Gianluca Caridi, Francesca Faravelli, Gianmarco Ghiggeri, Silvana Briuglia, Gaetano Tortorella, Stefano D'Arrigo, Chiara Pantaleoni, Daria Riva, Graziella Uziel, Anna Maria Lavercla, Alberto Permunian, Stefania Bova, Roberta Battini, Maria Roberta Cilio, Marilù Di Sabato, Francesco Emma, Vincenzo Leuzzi, Pasquale Parisi, Alessandro Simonati, Asma A. Al-Tawari, Laila Bastaki, Ahmad Aqeel, Mirjam M. De Jong, Roshan Koul, Anna Rajab, Matloob Azam, Clara Barbot, Berta Rodriguez, Ignacio Pascual-Castroviejo, Sinan Comu, Mustafa Akcakus, David Nicholl, C. Geoffrey Woods, Christopher Bennett, Jane Hurst, Christopher A. Walsh, Saunder Bernes, Henry Sanchez, Aldon E. Clark, Clement Donahue, Jin Hahn, Terence D. Sanger, Tomas E. Gallager, William B. Dobyns, Cynthia Daugherty, Kalpathy S. Krishnamoorthy, Dean Sarco, Trudy McKanna, Joanne Milisa, Wendy K. Chung, Darryl C. De Vivo, Hillary Raynes, Romaine Schubert, Alison Seward, David G. Brooks, Amy Goldstein, James Caldwell, Eco Finsecke, Bernard L. Maria, Kenton Holden, Robert P. Cruse, Kathryn J. Swoboda

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92 Citations (Scopus)

Abstract

Joubert syndrome-related disorders (JSRDs) are a group of clinically and genetically heterogeneous conditions that share a midbrain-hindbrain malformation, the molar tooth sign (MPS) visible on brain imaging, with variable neurological, ocular, and renal manifestations. Mutations in the CEP290 gene were recently identified in families with the MTS-related neurological features, many of which showed oculo-renal involvement typical of Senior-Löken syndrome (JSRD-SLS phenotype). Here, we performed comprehensive CEP290-mutation analysis on two nonoverlapping cohorts of JSRD-affected patients with a proven MTS. We identified mutations in 19 of 44 patients with JSRD-SLS. The second cohort consisted of 84 patients representing the spectrum of other JSRD subtypes, with mutations identified in only two patients. The data suggest that CEP290 mutations are frequently encountered and are largely specific to the JSRD-SLS subtype. One patient with mutation displayed complete situs inversus, confirming the clinical and genetic overlap between JSRDs and other ciliopathies.

Original languageEnglish
Pages (from-to)104-113
Number of pages10
JournalAmerican Journal of Human Genetics
Volume81
Issue number1
DOIs
Publication statusPublished - Jul 2007

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Brancati, F., Barrano, G., Silhavy, J. L., Marsh, S. E., Travaglini, L., Bielas, S. L., Amorini, M., Zablocka, D., Kayserili, H., Al-Gazali, L., Bertini, E., Boltshauser, E., D'Hooghe, M., Fazzi, E., Fenerci, E. Y., Hennekam, R. C. M., Kiss, A., Lees, M. M., Marco, E., ... Swoboda, K. J. (2007). CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. American Journal of Human Genetics, 81(1), 104-113. https://doi.org/10.1086/519026