Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt

Nataliya Di Donato; Teresa Neuhann; Anne-Karin Kahlert; Barbara Klink; Karl Hackmann; Irmingard Neuhann; Barbora Novotna; Jens Schallner; Claudia Krause; Ian A Glass; Shawn E Parnell; Anna Benet-Pages; Anke M Nissen; Wolfgang Berger; Janine Altmüller; Holger Thiele; Bernhard H F Weber; Evelin Schrock; William B Dobyns; Andrea Bier; Andreas Rump

doi:10.1136/jmedgenet-2015-103511

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Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt

Authors

Nataliya Di Donato Carl Gustav Carus Faculty of Medicine, Institute for Clinical Genetics, TU Dresden, Dresden, Germany Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA PubMed articles Google scholar articles
Teresa Neuhann Medical Genetics Center, Munich, Germany PubMed articles Google scholar articles
Anne-Karin Kahlert Carl Gustav Carus Faculty of Medicine, Institute for Clinical Genetics, TU Dresden, Dresden, Germany Department of Congenital Heart Disease and Pediatric Cardiology, University Hospital of Schleswig-Holstein, Kiel, Germany PubMed articles Google scholar articles
Barbara Klink Carl Gustav Carus Faculty of Medicine, Institute for Clinical Genetics, TU Dresden, Dresden, Germany PubMed articles Google scholar articles
Karl Hackmann Carl Gustav Carus Faculty of Medicine, Institute for Clinical Genetics, TU Dresden, Dresden, Germany PubMed articles Google scholar articles
Irmingard Neuhann MVZ Prof. Neuhann, Munich, Germany PubMed articles Google scholar articles
Barbora Novotna Department of Sozialpaediatrisches Zentrum, Klinik fuer Kinder und Jugendmedizin, Universitaetsklinikum Dresden, Dresden, Germany PubMed articles Google scholar articles
Jens Schallner Department of Sozialpaediatrisches Zentrum, Klinik fuer Kinder und Jugendmedizin, Universitaetsklinikum Dresden, Dresden, Germany PubMed articles Google scholar articles
Claudia Krause Carl Gustav Carus Faculty of Medicine, Institute for Clinical Genetics, TU Dresden, Dresden, Germany PubMed articles Google scholar articles
Ian A Glass Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA Division of Genetic Medicine, Department of Pediatrics, Seattle Children's Hospital, University of Washington, Seattle, Washington, USA Division of Genetic Medicine, Department of Medicine, University of Washington, Seattle, Washington, USA PubMed articles Google scholar articles
Shawn E Parnell Department of Radiology, Seattle Children's Hospital, University of Washington, Seattle, Washington, USA PubMed articles Google scholar articles
Anna Benet-Pages Medical Genetics Center, Munich, Germany PubMed articles Google scholar articles
Anke M Nissen Medical Genetics Center, Munich, Germany PubMed articles Google scholar articles
Wolfgang Berger Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland PubMed articles Google scholar articles
Janine Altmüller Cologne Center for Genomics, Cologne, Germany PubMed articles Google scholar articles
Holger Thiele Cologne Center for Genomics, Cologne, Germany PubMed articles Google scholar articles
Bernhard H F Weber Institute of Human Genetics, University of Regensburg, Regensburg, Germany PubMed articles Google scholar articles
Evelin Schrock Carl Gustav Carus Faculty of Medicine, Institute for Clinical Genetics, TU Dresden, Dresden, Germany PubMed articles Google scholar articles
William B Dobyns Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA Division of Genetic Medicine, Department of Pediatrics, Seattle Children's Hospital, University of Washington, Seattle, Washington, USA Departments of Pediatrics and Neurology, University of Washington, Seattle, Washington, USA PubMed articles Google scholar articles
Andrea Bier Gemeinschaftspraxis für Humangenetik, Dresden, Germany PubMed articles Google scholar articles
Andreas Rump Carl Gustav Carus Faculty of Medicine, Institute for Clinical Genetics, TU Dresden, Dresden, Germany PubMed articles Google scholar articles

Correspondence to Dr Nataliya Di Donato, Institute for Clinical Genetics, TU Dresden, Fetscherstrasse 74, Dresden 01307, Germany; Nataliya.didonato{at}uniklinikum-dresden.de

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Citation

Di Donato N, Neuhann T, Kahlert A, et al

Journal of Medical Genetics 2016;53:419-425.

Publication history

Received September 10, 2015
Revised January 11, 2016
Accepted January 12, 2016
First published February 3, 2016.

Online issue publication

October 17, 2016

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