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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders
European Journal of Human Genetics, Volume 21, No. 10, Year 2013
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Description
Joubert syndrome and related disorders (JSRD) are clinically and genetically heterogeneous ciliopathies sharing a peculiar midbrain-hindbrain malformation known as the 'molar tooth sign'. To date, 19 causative genes have been identified, all coding for proteins of the primary cilium. There is clinical and genetic overlap with other ciliopathies, in particular with Meckel syndrome (MKS), that is allelic to JSRD at nine distinct loci. We previously identified the INPP5E gene as causative of JSRD in seven families linked to the JBTS1 locus, yet the phenotypic spectrum and prevalence of INPP5E mutations in JSRD and MKS remain largely unknown. To address this issue, we performed INPP5E mutation analysis in 483 probands, including 408 JSRD patients representative of all clinical subgroups and 75 MKS fetuses. We identified 12 different mutations in 17 probands from 11 JSRD families, with an overall 2.7% mutation frequency among JSRD. The most common clinical presentation among mutated families (7/11, 64%) was Joubert syndrome with ocular involvement (either progressive retinopathy and/or colobomas), while the remaining cases had pure JS. Kidney, liver and skeletal involvement were not observed. None of the MKS fetuses carried INPP5E mutations, indicating that the two ciliopathies are not allelic at this locus. © 2013 Macmillan Publishers Limited.
Authors & Co-Authors
Travaglini, Lorena
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Brancati, Francesco
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Italy, Rome
Università Degli Studi Di Roma Tor Vergata
Silhavy, Jennifer L.
United States, Chevy Chase
Howard Hughes Medical Institute
United States, San Diego
Institute for Genomic Medicine
Iannicelli, Miriam
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Nickerson, Elizabeth
United States, Cambridge
Broad Institute
Elkhartoufi, Nadia
France, Paris
Inserm
Scott, Eric M.
United States, Chevy Chase
Howard Hughes Medical Institute
United States, San Diego
Institute for Genomic Medicine
Spencer, Emily G.
United States, Chevy Chase
Howard Hughes Medical Institute
United States, San Diego
Institute for Genomic Medicine
Gabriel, Stacey Bolk
United States, Cambridge
Broad Institute
Thomas, Sophie
France, Paris
Inserm
Ben-Zeev, Bruria
Israel, Tel Hashomer Tel Aviv
Chaim Sheba Medical Center Israel
Bertini, Enrico Silvio
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Boltshauser, Eugen J.
Switzerland, Zurich
Kinderspital Zürich
Chaouch, Malika
Algeria, Algiers
Centre Hospitalier Universitaire Ben Aknoun
Cilio, Maria Roberta
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
de Jong, Mirjam M.
Netherlands, Groningen
Rijksuniversiteit Groningen
Kayserili, Hülya U.
Turkey, Istanbul
Istanbul Üniversitesi
Ogǔr, Gönül
Turkey, Samsun
Ondokuz Mayis Üniversitesi
Poretti, Andrea
Switzerland, Zurich
Kinderspital Zürich
United States, Baltimore
Johns Hopkins School of Medicine
Signorini, Sabrina Giovanna
Italy, Pavia
Irccs Fondazione Mondino
Uziel, Graziella
Italy, Milan
Foundation Irccs Neurological Institute C. Besta
Zaki, Maha S.
Egypt, Giza
National Research Centre
Johnson, Colin A.
United Kingdom, Leeds
University of Leeds, School of Medicine
Attié-Bitach, Tania
France, Paris
Inserm
Gleeson, Joseph G.
United States, Chevy Chase
Howard Hughes Medical Institute
United States, San Diego
Institute for Genomic Medicine
Valente, Enza Maria
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Italy, Salerno
Università Degli Studi Di Salerno
Ali-Pacha, Lamia
Unknown Affiliation
Zankl, Andreas
Unknown Affiliation
Leventer, Richard Jacob
Unknown Affiliation
Grattan-Smith, Padraic J.
Unknown Affiliation
Janecke, Andreas Robert
Unknown Affiliation
Koch, Johannes
Unknown Affiliation
Freilinger, Michael
Unknown Affiliation
D'Hooghe, Marc
Unknown Affiliation
Sznajer, Yves
Unknown Affiliation
Vilain, Catheline N.
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
Daković, Ivana
Unknown Affiliation
Lončarević, Damir
Unknown Affiliation
Mejaški-Bošnjak, Vlatka
Unknown Affiliation
Petkovic, Djuro
Unknown Affiliation
Abdel-Salam, Ghada M.H.
Egypt, Giza
National Research Centre
Abdel Aleem, Alice K.
Egypt, Giza
National Research Centre
Martí-Carrera, Itxaso
Unknown Affiliation
Pinard, Jean Marc
Unknown Affiliation
Quijano-Roy, Susana
Unknown Affiliation
Sigaudy, Sabine
Unknown Affiliation
de Lonlay, Pascale D.
France, Paris
Inserm
Romano, Stéphane
France, Paris
Inserm
Verloès, Alain
France, Paris
Inserm
Touraine, Renaud Laurian
Unknown Affiliation
Kœnig, Michel
Unknown Affiliation
Dollfus, Hélène J.
Unknown Affiliation
Flori, Elisabeth
Unknown Affiliation
Fradin, Mélanie
Unknown Affiliation
Lagier-Tourenne, Clotilde
Unknown Affiliation
Messer, Jean
Unknown Affiliation
Collignon, Patrick
Unknown Affiliation
Penzien, Johannes M.
Unknown Affiliation
Bussmann, Christian
Unknown Affiliation
Merkenschlager, Andreas
Unknown Affiliation
Philippi, Heike
Unknown Affiliation
Kurlemann, Gerhard
Unknown Affiliation
Grundmann-Hauser, Kathrin
Unknown Affiliation
Dacou-Voutetakis, Catherine
Unknown Affiliation
Kitsiou-Tzeli, Sofia
Unknown Affiliation
Pons, Roser Maria
Unknown Affiliation
Jerney, Judith
Unknown Affiliation
Halldorsson, Saevar
Unknown Affiliation
Johannsdottir, Jonina Th
Unknown Affiliation
Lúdvígsson, Pétur
Unknown Affiliation
Phadke, Shubha R.
Unknown Affiliation
Girisha, Katta Mohan
Unknown Affiliation
Doshi, H.
Unknown Affiliation
Udani, V.
Unknown Affiliation
Kaul, M.
Unknown Affiliation
Stuart, Bernard J.
Unknown Affiliation
Magee, Alex C.
Unknown Affiliation
Spiegel, Ronen
Unknown Affiliation
Shalev, Stavit Allon
Unknown Affiliation
Mandel, Hanna George
Unknown Affiliation
Lev, Dorit Leshem
Unknown Affiliation
Michelson, Marina
Unknown Affiliation
Idit, M.
Unknown Affiliation
Ben-Zeev, B.
Unknown Affiliation
Gershoni-Baruch, Ruth
Unknown Affiliation
Ficcadenti, Anna
Unknown Affiliation
Fischetto, Rita
Unknown Affiliation
Gentile, Mattia A.
Unknown Affiliation
Della Monica, Matteo
Unknown Affiliation
Pezzani, Marco
Unknown Affiliation
Graziano, Claudio A.
Unknown Affiliation
Seri, Marco
Unknown Affiliation
Benedicenti, Francesco
Unknown Affiliation
Stanzial, Franco
Unknown Affiliation
Borgatti, Renato
Unknown Affiliation
Romaniello, Romina
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
Barone, Rita
Unknown Affiliation
Sorge, Giovanni
Unknown Affiliation
Bigoni, Stefania
Unknown Affiliation
Ferlini, Alessandra
Unknown Affiliation
Donati, Maria Alice
Unknown Affiliation
Biancheri, Roberta
Unknown Affiliation
Caridi, Gianluca
Unknown Affiliation
Divizia, Maria Teresa
Unknown Affiliation
Faravelli, Francesca
Unknown Affiliation
Ghiggeri, G. M.
Unknown Affiliation
Rossi, Andrea
Unknown Affiliation
Amorini, Maria
Unknown Affiliation
Briuglia, Silvana
Unknown Affiliation
Salpietro, D. C.
Unknown Affiliation
Tortorella, Gaetano
Unknown Affiliation
D'Arrigo, Stefano
Italy, Milan
Foundation Irccs Neurological Institute C. Besta
Moroni, Isabella
Italy, Milan
Foundation Irccs Neurological Institute C. Besta
Pantaleoni, Chiara
Italy, Milan
Foundation Irccs Neurological Institute C. Besta
Riva, Daria
Italy, Milan
Foundation Irccs Neurological Institute C. Besta
Spaccini, Luigina
Italy, Milan
Foundation Irccs Neurological Institute C. Besta
Del Giudice, Ennio
Unknown Affiliation
Ludwig, Kathrin
Unknown Affiliation
Permunian, Alberto
Unknown Affiliation
Suppiej, Agnese
Unknown Affiliation
Battini, Roberta
Unknown Affiliation
Di Giacomo, Marilena Carmela
Unknown Affiliation
Priolo, Manuela
Unknown Affiliation
Di Sabato, Marilù Lucia
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Emma, F.
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Leuzzi, Vincenzo
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Mancini, Francesca
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Majore, Silvia
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Micalizzi, Alessia
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Parisi, Pasquale
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Romani, Marta
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Zanni, Ginevra
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Pollazzon, Marzia
Unknown Affiliation
Renieri, Alessandra
Unknown Affiliation
Belligni, Elga Fabia
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
Said, Edith
Unknown Affiliation
Strömme, Petter
Unknown Affiliation
Koul, Roshan Lal
Unknown Affiliation
Rajab, Anna A.
Unknown Affiliation
Azam, Matloob
Unknown Affiliation
Barbot, Clara
Unknown Affiliation
Salih, Mustafa A.M.
Unknown Affiliation
Tabarki, Brahim M.
Unknown Affiliation
Rodríguez, Berta
Unknown Affiliation
Pascual-Castroviejo, Ignacio
Unknown Affiliation
Gener, Blanca
Unknown Affiliation
Lemke, Johannes R.
Unknown Affiliation
Flüss, Joël
Unknown Affiliation
Hennekam, Raoul C.M.
Unknown Affiliation
Wolf, Nicole I.
Unknown Affiliation
Gouider-Khouja, Neziha
Unknown Affiliation
Kraoua, Ichraf
Unknown Affiliation
Ceylaner, Serdar
Unknown Affiliation
Anlar, Banu
Turkey, Istanbul
Istanbul Üniversitesi
Yüksel, Adnan
Turkey, Istanbul
Istanbul Üniversitesi
Caglayan, Ahmet Okay
Unknown Affiliation
Al-Gazali, Lihadh I.
Unknown Affiliation
Woods, Christopher Geoffrey
United States, Cambridge
Broad Institute
Bennett, Christopher P.
United Kingdom, Leeds
University of Leeds, School of Medicine
Hurst, Jane A.
United Kingdom, Leeds
University of Leeds, School of Medicine
Sheridan, Eamonn G.
United Kingdom, Leeds
University of Leeds, School of Medicine
Hemingway, Cheryl A.
Unknown Affiliation
Lees, Melissa M.
Unknown Affiliation
Wakeling, Emma L.
Unknown Affiliation
Blair, Edward M.
Unknown Affiliation
Sanchez, Henry
Unknown Affiliation
Donahue, Clement
Unknown Affiliation
Sherr, Elliott H.
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
Karaca, Ender
Unknown Affiliation
Swoboda, Kathryn J.
Unknown Affiliation
Viskochil, David H.
Unknown Affiliation
Dobyns, William B.
Unknown Affiliation
Statistics
Citations: 72
Authors: 200
Affiliations: 19
Identifiers
Doi:
10.1038/ejhg.2012.305
ISSN:
10184813
Research Areas
Cancer
Genetics And Genomics
Study Design
Cross Sectional Study