Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
American Journal of Human Genetics, Volume 81, No. 1, Year 2007
Notification
URL copied to clipboard!
Description
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. © 2007 by The American Society of Human Genetics. All rights reserved.
Authors & Co-Authors
Brancati, Francesco
Italy, Rome
Mendel Institute
Italy, Chieti
University of G. D'annunzio Chieti and Pescara
Barrano, Giuseppe
Italy, Rome
Mendel Institute
Italy, Rome
Sapienza Università Di Roma
Silhavy, Jennifer L.
United States, La Jolla
Department of Neurosciences
Marsh, Sarah E.
United States, La Jolla
Department of Neurosciences
Travaglini, Lorena
Italy, Rome
Mendel Institute
Italy, Rome
Sapienza Università Di Roma
Bielas, Stephanie L.
United States, La Jolla
Department of Neurosciences
Amorini, Maria
Italy, Messina
Università Degli Studi Di Messina
Zablocka, Dominika
United States, La Jolla
Department of Neurosciences
Kayserili, Hülya U.
Turkey, Istanbul
İstanbul Tıp Fakültesi
Al-Gazali, Lihadh I.
United Arab Emirates, Al Ain
College of Medicine and Health Sciences United Arab Emirates University
Bertini, Enrico Silvio
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Boltshauser, Eugen J.
Switzerland, Zurich
Kinderspital Zürich
D'Hooghe, Marc
Belgium, Brugge
Sint-jan Hospital
Fazzi, Elisa Maria
Italy, Pavia
Università Degli Studi Di Pavia
Fenerci, Elif Y.
Turkey, Istanbul
İstanbul University-cerrahpaşa Cerrahpaşa Faculty of Medicine
Hennekam, Raoul C.M.
United Kingdom, London
Ucl Great Ormond Street Institute of Child Health
Kiss, Andrea
Brazil, Porto Alegre
Universidade Federal de Ciencias da Saúde de Porto Alegre
Lees, Melissa M.
Unknown Affiliation
Marco, Elysa J.
United States, San Francisco
University of California, San Francisco
Phadke, Shubha R.
India, Lucknow
Sanjay Gandhi Postgraduate Institute of Medical Sciences
Rigoli, Luciana Concetta
Italy, Messina
Università Degli Studi Di Messina
Romano, Stéphane
France, Paris
Hôpital Necker Enfants Malades
Salpietro, D. C.
Italy, Messina
Università Degli Studi Di Messina
Sherr, Elliott H.
United States, San Francisco
University of California, San Francisco
Signorini, Sabrina Giovanna
Italy, Pavia
Università Degli Studi Di Pavia
Strömme, Petter
Norway, Oslo
Ulleval University Hospital
Stuart, Bernard J.
Ireland, Dublin
University College Dublin
Sztriha, László
Hungary, Szeged
Szegedi Tudományegyetem Szte
Viskochil, David H.
United States, Salt Lake City
The University of Utah
Yüksel, Adnan
Turkey, Istanbul
İstanbul University-cerrahpaşa Cerrahpaşa Faculty of Medicine
Dallapiccola, Bruno
Italy, Rome
Mendel Institute
Italy, Rome
Sapienza Università Di Roma
Valente, Enza Maria
Italy, Rome
Mendel Institute
Italy, Messina
Università Degli Studi Di Messina
Gleeson, Joseph G.
United States, La Jolla
Department of Neurosciences
Grattan-Smith, Padraic J.
Unknown Affiliation
Leventer, Richard Jacob
Unknown Affiliation
Janecke, Andreas Robert
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
Chong, Ae Kim
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
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
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
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
Tortorella, Gaetano
Unknown Affiliation
D'Arrigo, Stefano
Unknown Affiliation
Pantaleoni, Chiara
Unknown Affiliation
Riva, Daria
Unknown Affiliation
Uziel, Graziella
Unknown Affiliation
Lavercla, Anna Maria
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
Emma, F.
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
Aqeel, Ahmad
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
Statistics
Citations: 145
Authors: 100
Affiliations: 21
Identifiers
Doi:
10.1086/519026
ISSN:
00029297
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Study Design
Cohort Study