RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

F. Brancati, L. Travaglini, D. Zablocka, E. Boltshauser, P. Accorsi, G. Montagna, J. L. Silhavy, G. Barrano, E. Bertini, F. Emma, L. Rigoli, Richard Leventer, Padraic Grattan-Smith, Andreas Janecke, Marc D'Hooghe, Rudy Van Coster, Karin Dias, Carla Moco, Ana Moreira, Chong Ae KimGustavo Maegawa, Ghada M H Abdel-Salam, Alice Abdel-Aleem, Maha S. Zaki, Itxaso Marti, Susana Quijano-Roy, Pascale de Lonlay, Stephane Romano, Alain Verloes, Renaud Touraine, Michel Koenig, Clotilde Lagier-Tourenne, Jean Messer, Heike Philippi, Sofia Kitsiou Tzeli, Saevar Halldorsson, Jonina Johannsdottir, Peter Ludvigsson, Shubha R. Phadke, Bernard Stuart, Alex Magee, Dorit Lev, Marina Michelson, Bruria Ben-Zeev, Rita Fischetto, Mattia Gentile, Silvia Battaglia, Lucio Giordano, Lorenzo Pinelli, Loredana Boccone, Martino Ruggieri, Stefania Bigoni, Alessandra Ferlini, Maria Alice Donati, Elena Procopio, Gianluca Caridi, Francesca Faravelli, Gianmarco Ghiggeri, Silvana Briuglia, Carmelo D. Salpietro, Gaetano Tortorella, Stefano D'Arrigo, Chiara Pantaleoni, Daria Riva, Graziella Uziel, Anna Maria Laverda, Alberto Permunian, Stefania Bova, Roberta Battini, Maria Roberta Cilio, Marilu Di Sabato, Vincenzo Leuzzi, Pasquale Parisi, Alessandro Simonati, Asma A. Al-Tawari, Laila Bastaki, [No Value] Ahmad, Mirjam M. de Jong, Roshan Koul, Anna Rajab, Matloob Azam, Clara Barbot, Berta Rodriguez, Ignacio Pascual-Castroviejo, Hulya Kayserili, Sinan Comu, Mustafa Akcakus, Lihadh Al Gazali, Laszlo Sztriha, David Nicholl, C. Geoffrey Woods, Christopher Bennett, Jane Hurst, Raoul Hennekam, Melissa Lees, Saunder Bernes, Henry Sanchez, Aldon E. Clark, Elysa DeMarco, Elysa DeMarco, Clement Donahue, Elliot Sherr, Terence D. Sanger, Tomas E. Gallager, William B. Dobyns, Cynthia Daugherty, Kalpathy S. Krishnamoorthy, Dean Sarco, Christopher A. Walsh, 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, Dave Viskochil, B. Dallapiccola, J. G. Gleeson, Enza Maria Valente

Research output: Contribution to journalArticle

43 Citations (Scopus)

Abstract

Joubert syndrome-related disorders (JSRDs) are autosomal recessive pleiotropic conditions sharing a peculiar cerebellar and brainstem malformation known as the 'molar tooth sign'(MTS). Recently, mutations in a novel ciliary gene, RPGRIP1L, have been shown to cause both JSRDs and Meckel-Gruber syndrome. We searched for RPGRIP1L mutations in 120 patients with proven MTS and phenotypes representative of all JSRD clinical subgroups. Two homozygous mutations, the previously reported p.T615P in exon 15 and the novel c.2268_2269delA in exon 16, were detected in 2 of 16 families with cerebello-renal presentation (∼12%). Conversely, no pathogenic changes were found in patients with other JSRD phenotypes, suggesting that RPGRIP1L mutations are largely confined to the cerebello-renal subgroup, while they overall represent a rare cause of JSRD (

Original languageEnglish
Pages (from-to)164-170
Number of pages7
JournalClinical Genetics
Volume74
Issue number2
DOIs
Publication statusPublished - Aug 2008
Externally publishedYes

Keywords

  • Joubert syndrome-related disorders
  • Molar tooth sign
  • Nephronophthisis
  • RPGRIP1L

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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    Brancati, F., Travaglini, L., Zablocka, D., Boltshauser, E., Accorsi, P., Montagna, G., Silhavy, J. L., Barrano, G., Bertini, E., Emma, F., Rigoli, L., Leventer, R., Grattan-Smith, P., Janecke, A., D'Hooghe, M., Van Coster, R., Dias, K., Moco, C., Moreira, A., ... Valente, E. M. (2008). RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. Clinical Genetics, 74(2), 164-170. https://doi.org/10.1111/j.1399-0004.2008.01047.x