Article info

Download PDFPDF
Original article
A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia

Authors

  • Eleonora Di Gregorio Department of Medical Sciences, University of Torino, Turin, Italy S.C.d.U. Medical Genetics, Città della Salute e della Scienza, Torino, Italy PubMed articlesGoogle scholar articles
  • Federico T Bianchi Department of Molecular Biotechnology and Health Sciences, University of Torino, Molecular Biotechnology Centre, Torino, Italy PubMed articlesGoogle scholar articles
  • Alfonso Schiavi Department of Biomedicine and Prevention, University of Roma ‘Tor Vergata’, Rome, Italy Institute of Clinical Chemistry and Laboratory Medicine of the Heinrich Heine University, and the IUF—Leibniz Research Institute for Environmental Medicine, Duesseldorf, Germany PubMed articlesGoogle scholar articles
  • Alessandra M A Chiotto Department of Molecular Biotechnology and Health Sciences, University of Torino, Molecular Biotechnology Centre, Torino, Italy PubMed articlesGoogle scholar articles
  • Marco Rolando S.C. Neuropsichiatria Infantile, Pinerolo, Italy PubMed articlesGoogle scholar articles
  • Ludovica Verdun di Cantogno S.C.d.U. Anatomia Patologica, Città della Salute e della Scienza, Torino, Italy PubMed articlesGoogle scholar articles
  • Enrico Grosso S.C.d.U. Medical Genetics, Città della Salute e della Scienza, Torino, Italy PubMed articlesGoogle scholar articles
  • Simona Cavalieri S.C.d.U. Medical Genetics, Città della Salute e della Scienza, Torino, Italy PubMed articlesGoogle scholar articles
  • Alessandro Calcia Department of Medical Sciences, University of Torino, Turin, Italy PubMed articlesGoogle scholar articles
  • Daniela Lacerenza Department of Medical Sciences, University of Torino, Turin, Italy PubMed articlesGoogle scholar articles
  • Orsetta Zuffardi Department of Molecular Medicine, University of Pavia, Pavia, Italy IRCCS ‘National Neurological Institute C. Mondino’ Foundation, Pavia, Italy PubMed articlesGoogle scholar articles
  • Saverio Francesco Retta Department of Clinical and Biological Sciences, University of Turin, Orbassano, Italy PubMed articlesGoogle scholar articles
  • Giovanni Stevanin Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (INSERM/UPMC Univ. Paris 6, UMR_S975; CNRS 7225, EPHE), Pitié-Salpêtrière Hospital, Paris, France APHP, Fédération de génétique, Pitié-Salpêtrière Hospital, Paris, France PubMed articlesGoogle scholar articles
  • Cecilia Marelli Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (INSERM/UPMC Univ. Paris 6, UMR_S975; CNRS 7225, EPHE), Pitié-Salpêtrière Hospital, Paris, France APHP, Fédération de génétique, Pitié-Salpêtrière Hospital, Paris, France PubMed articlesGoogle scholar articles
  • Alexandra Durr Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (INSERM/UPMC Univ. Paris 6, UMR_S975; CNRS 7225, EPHE), Pitié-Salpêtrière Hospital, Paris, France APHP, Fédération de génétique, Pitié-Salpêtrière Hospital, Paris, France PubMed articlesGoogle scholar articles
  • Sylvie Forlani Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (INSERM/UPMC Univ. Paris 6, UMR_S975; CNRS 7225, EPHE), Pitié-Salpêtrière Hospital, Paris, France PubMed articlesGoogle scholar articles
  • Jamel Chelly Université Paris Descartes, Institut Cochin, Hôpital Cochin, Paris, France PubMed articlesGoogle scholar articles
  • Francesca Montarolo University of Torino, Neuroscience Institute Cavalieri Ottolenghi (NICO), Torino, Italy PubMed articlesGoogle scholar articles
  • Filippo Tempia University of Torino, Neuroscience Institute Cavalieri Ottolenghi (NICO), Torino, Italy PubMed articlesGoogle scholar articles
  • Hilary E Beggs Department of Ophthalmology, University of California San Francisco, San Francisco, California, USA PubMed articlesGoogle scholar articles
  • Robin Reed Department of Cell Biology, Harvard Medical School, Boston, USA PubMed articlesGoogle scholar articles
  • Stefania Squadrone Istituto Zooprofilattico Sperimentale del Piemonte, Liguria e Valle d'Aosta, CReAA- National Reference Centre for Surveillance and Monitoring of Animal Feed, Lab. Contaminanti Ambientali, Torino, Italy PubMed articlesGoogle scholar articles
  • Maria C Abete Istituto Zooprofilattico Sperimentale del Piemonte, Liguria e Valle d'Aosta, CReAA- National Reference Centre for Surveillance and Monitoring of Animal Feed, Lab. Contaminanti Ambientali, Torino, Italy PubMed articlesGoogle scholar articles
  • Alessandro Brussino Department of Medical Sciences, University of Torino, Turin, Italy PubMed articlesGoogle scholar articles
  • Natascia Ventura Department of Biomedicine and Prevention, University of Roma ‘Tor Vergata’, Rome, Italy Institute of Clinical Chemistry and Laboratory Medicine of the Heinrich Heine University, and the IUF—Leibniz Research Institute for Environmental Medicine, Duesseldorf, Germany PubMed articlesGoogle scholar articles
  • Ferdinando Di Cunto Department of Molecular Biotechnology and Health Sciences, University of Torino, Molecular Biotechnology Centre, Torino, Italy PubMed articlesGoogle scholar articles
  • Alfredo Brusco Department of Medical Sciences, University of Torino, Turin, Italy S.C.d.U. Medical Genetics, Città della Salute e della Scienza, Torino, Italy PubMed articlesGoogle scholar articles
  1. Correspondence to Alfredo Brusco, Department of Medical Sciences, University of Torino, via Santena, 19, Torino 10126, Italy; alfredo.brusco{at}unito.it/brusco.alfredo{at}gmail.com
View Full Text

Citation

Di Gregorio E, Bianchi FT, Schiavi A, et al
A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia

Publication history

  • Received January 22, 2013
  • Revised May 2, 2013
  • Accepted May 6, 2013
  • First published June 7, 2013.
Online issue publication 
July 15, 2013

Article Versions

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.