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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
MKS3/TMEM67 mutations are a major cause of COACH syndrome, a joubert syndrome related disorder with liver involvement
Human Mutation, Volume 30, No. 2, Year 2009
Notification
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Description
The acronym COACH defines an autosomal recessive condition of Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, Coloboma and Hepatic fibrosis. Patients present the “molar tooth sign”, a midbrain-hindbrain malformation pathognomonic for Joubert Syndrome (JS) and Related Disorders (JSRDs). The main feature of COACH is congenital hepatic fibrosis (CHF), resulting from malformation of the embryonic ductal plate. CHF is invariably found also in Meckel syndrome (MS), a lethal ciliopathy already found to be allelic with JSRDs at the CEP290 and RPGRIP1L genes. Recently, mutations in the MKS3 gene (approved symbol TMEM67), causative of about 7% MS cases, have been detected in few Meckel-like and pure JS patients. Analysis of MKS3 in 14. COACH families identified mutations in 8 (57%). Features such as colobomas and nephronophthisis were found only in a subset of mutated cases. These data confirm COACH as a distinct JSRD subgroup with core features of JS plus CHF, which major gene is MKS3, and further strengthen gene-phenotype correlates in JSRDs. © 2009, John Wiley and Sons Inc. All rights reserved.
Authors & Co-Authors
Brancati, Francesco
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Iannicelli, Miriam
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Italy, Rome
Sapienza Università Di Roma
Travaglini, Lorena
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Italy, Rome
Sapienza Università Di Roma
Mazzotta, Annalisa
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Bertini, Enrico Silvio
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Boltshauser, Eugen J.
Switzerland, Zurich
Kinderspital Zürich
D'Arrigo, Stefano
Italy, Milan
Foundation Irccs Neurological Institute C. Besta
Emma, F.
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Fazzi, Elisa Maria
Italy, Pavia
Irccs Fondazione Mondino
Gallizzi, Romina
Italy, Messina
Università Degli Studi Di Messina
Gentile, Mattia A.
Italy, Castellana Grotte
Irccs Saverio de Bellis
Lončarević, Damir
Croatia, Zagreb
Childern's Hospital Zagreb
Mejaški-Bošnjak, Vlatka
Croatia, Zagreb
Childern's Hospital Zagreb
Pantaleoni, Chiara
Italy, Milan
Foundation Irccs Neurological Institute C. Besta
Rigoli, Luciana Concetta
Italy, Messina
Università Degli Studi Di Messina
Salpietro, D. C.
Italy, Messina
Università Degli Studi Di Messina
Signorini, Sabrina Giovanna
Italy, Pavia
Irccs Fondazione Mondino
Verloès, Alain
France, Paris
Hôpital Robert-debré Ap-hp
Dallapiccola, Bruno
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Italy, Rome
Sapienza Università Di Roma
Gleeson, Joseph G.
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Valente, Enza Maria
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Italy, Messina
Università Degli Studi Di Messina
Zankl, Andreas
Unknown Affiliation
Leventer, Richard Jacob
Unknown Affiliation
Janecke, Andreas Robert
Unknown Affiliation
Sznajer, Yves
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
Petkovic, Djuro
Unknown Affiliation
Abdel-Salam, Ghada M.H.
Unknown Affiliation
Zaki, Maha S.
Unknown Affiliation
Martí-Carrera, Itxaso
Unknown Affiliation
Quijano-Roy, Susana
Unknown Affiliation
Sigaudy, Sabine
Unknown Affiliation
de Lonlay, Pascale D.
Unknown Affiliation
Romano, Stéphane
Unknown Affiliation
Touraine, Renaud Laurian
Unknown Affiliation
Kœnig, Michel
Unknown Affiliation
Lagier-Tourenne, Clotilde
Unknown Affiliation
Messer, Jean
Unknown Affiliation
Collignon, Patrick
Unknown Affiliation
Wolf, Nicole I.
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
Udani, V.
Unknown Affiliation
Stuart, Bernard J.
Unknown Affiliation
Magee, Alex C.
United Kingdom, Belfast
Belfast
Lev, Dorit Leshem
Unknown Affiliation
Michelson, Marina
Unknown Affiliation
Ben-Zeev, Bruria
Unknown Affiliation
Fischetto, Rita
Unknown Affiliation
Benedicenti, Francesco
Unknown Affiliation
Stanzial, Franco
Unknown Affiliation
Borgatti, Renato
Unknown Affiliation
Accorsi, Patrizia
Unknown Affiliation
Battaglia, Silvia
Unknown Affiliation
Giordano, Lucio
Unknown Affiliation
Pinelli, Lorenzo
Unknown Affiliation
Boccone, Loredana
Unknown Affiliation
Bigoni, Stefania
Unknown Affiliation
Ferlini, Alessandra
Unknown Affiliation
Donati, Maria Alice
Unknown Affiliation
Caridi, Gianluca
Unknown Affiliation
Divizia, Maria Teresa
Unknown Affiliation
Faravelli, Francesca
Unknown Affiliation
Ghiggeri, G. M.
Unknown Affiliation
Briuglia, Silvana
Unknown Affiliation
Tortorella, Gaetano
Unknown Affiliation
Riva, Daria
Unknown Affiliation
Spaccini, Luigina
Unknown Affiliation
Uziel, Graziella
Unknown Affiliation
Ludwig, Kathrin
Unknown Affiliation
Permunian, Alberto
Unknown Affiliation
Suppiej, Agnese
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
Pollazzon, Marzia
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
de Jong, Mirjam M.
Unknown Affiliation
Strömme, Petter
Unknown Affiliation
Koul, Roshan Lal
Unknown Affiliation
Azam, Matloob
Unknown Affiliation
Barbot, Clara
Unknown Affiliation
Rodríguez, Berta
Unknown Affiliation
Pascual-Castroviejo, Ignacio
Unknown Affiliation
Anlar, Banu
Unknown Affiliation
Karaca, Ender
Unknown Affiliation
Kayserili, Hülya U.
Unknown Affiliation
Yüksel, Adnan
Unknown Affiliation
Al-Gazali, Lihadh I.
Unknown Affiliation
Sztriha, László
Unknown Affiliation
Woods, Christopher Geoffrey
United Kingdom, Cambridge
Cambridge
Bennett, Christopher P.
United Kingdom, Leeds
Leeds
Hurst, Jane A.
United Kingdom, Leeds
Leeds
Sheridan, Eamonn G.
United Kingdom, Leeds
Leeds
Hennekam, Raoul C.M.
United Kingdom, London
London
Lees, Melissa M.
United Kingdom, London
London
Blair, Edward M.
United Kingdom, Oxford
Oxford
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
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
Statistics
Citations: 94
Authors: 128
Affiliations: 17
Identifiers
Doi:
10.1002/humu.20924
ISSN:
10597794
Research Areas
Genetics And Genomics