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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders
Clinical Genetics, Volume 74, No. 2, Year 2008
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Description
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 (<2%). © 2008 The Authors Journal compilation © 2008 Blackwell Munksgaard.
Authors & Co-Authors
Brancati, Francesco
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Italy, Chieti
University of G. D'annunzio Chieti and Pescara
Travaglini, Lorena
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Italy, Rome
Sapienza Università Di Roma
Zablocka, Dominika
United States, La Jolla
University of California, San Diego
Boltshauser, Eugen J.
Switzerland, Zurich
Kinderspital Zürich
Accorsi, Patrizia
Unknown Affiliation
Montagna, Giorgia
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Italy, Rome
Sapienza Università Di Roma
Silhavy, Jennifer L.
United States, La Jolla
University of California, San Diego
Barrano, Giuseppe
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Italy, Rome
Sapienza Università Di Roma
Bertini, Enrico Silvio
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Emma, F.
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Rigoli, Luciana Concetta
Italy, Messina
Università Degli Studi Di Messina
Leventer, Richard Jacob
Unknown Affiliation
Grattan-Smith, Padraic J.
Unknown Affiliation
Janecke, Andreas Robert
Unknown Affiliation
D'Hooghe, Marc
Unknown Affiliation
van Coster, Rudy N.A.
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
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
de Lonlay, Pascale D.
Unknown Affiliation
Romano, Stéphane
Unknown Affiliation
Verloès, Alain
Unknown Affiliation
Touraine, Renaud Laurian
Unknown Affiliation
Kœnig, Michel
Unknown Affiliation
Lagier-Tourenne, Clotilde
Unknown Affiliation
Messer, Jean
Unknown Affiliation
Philippi, Heike
Unknown Affiliation
Tzeli, Sofia Kitsiou
Unknown Affiliation
Halldorsson, Saevar
Unknown Affiliation
Johannsdottir, Jonina Th
Unknown Affiliation
Lúdvígsson, Pétur
Unknown Affiliation
Phadke, Shubha R.
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
Gentile, Mattia A.
Unknown Affiliation
Battaglia, Silvia
Unknown Affiliation
Giordano, Lucio
Unknown Affiliation
Pinelli, Lorenzo
Unknown Affiliation
Boccone, Loredana
Unknown Affiliation
Ruggieri, Martino
Unknown Affiliation
Bigoni, Stefania
Unknown Affiliation
Ferlini, Alessandra
Unknown Affiliation
Donati, Maria Alice
Unknown Affiliation
Procopio, Elena
Unknown Affiliation
Caridi, Gianluca
Unknown Affiliation
Faravelli, Francesca
Unknown Affiliation
Ghiggeri, G. M.
Unknown Affiliation
Briuglia, Silvana
Unknown Affiliation
Salpietro, D. C.
Unknown Affiliation
Tortorella, Gaetano
Unknown Affiliation
D'Arrigo, Stefano
Unknown Affiliation
Pantaleoni, Chiara
Unknown Affiliation
Riva, Daria
Unknown Affiliation
Uziel, Graziella
Unknown Affiliation
Permunian, Alberto
Unknown Affiliation
Bova, Stefania Maria
Unknown Affiliation
Battini, Roberta
Unknown Affiliation
Cilio, Maria Roberta
Unknown Affiliation
Di Sabato, Marilù Lucia
Unknown Affiliation
Leuzzi, Vincenzo
Unknown Affiliation
Parisi, Pasquale
Unknown Affiliation
Simonati, Alessandro
Unknown Affiliation
Al-Tawari, Asma A.
Unknown Affiliation
Bastaki, Lailá A.
Unknown Affiliation
de Jong, Mirjam M.
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
Kayserili, Hülya U.
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
Hennekam, Raoul C.M.
Unknown Affiliation
Lees, Melissa 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
Dallapiccola, Bruno
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Italy, Rome
Sapienza Università Di Roma
Gleeson, Joseph G.
United States, La Jolla
University of California, San Diego
Valente, Enza Maria
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Italy, Messina
Università Degli Studi Di Messina
Statistics
Citations: 64
Authors: 108
Affiliations: 7
Identifiers
Doi:
10.1111/j.1399-0004.2008.01047.x
ISSN:
13990004
Research Areas
Genetics And Genomics