Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development

Gwang-Jin Kim; Elisabeth Sock; Astrid Buchberger; Walter Just; Friederike Denzer; Wolfgang Hoepffner; James German; Trevor Cole; Jillian Mann; John H Seguin; William Zipf; Colm Costigan; Hardi Schmiady; Moritz Rostásy; Mildred Kramer; Simon Kaltenbach; Bernd Rösler; Ina Georg; Elke Troppmann; Anne-Christin Teichmann; Anika Salfelder; Sebastian A Widholz; Peter Wieacker; Olaf Hiort; Giovanna Camerino; Orietta Radi; Michael Wegner; Hans-Henning Arnold; Gerd Scherer

doi:10.1136/jmedgenet-2014-102864

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Copy number variation

Original article

Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development

Authors

Gwang-Jin Kim Institute of Human Genetics, University of Freiburg, Freiburg, Germany Faculty of Biology, University of Freiburg, Freiburg, Germany PubMed articles Google scholar articles
Elisabeth Sock Institute of Biochemistry, University of Erlangen-Nürnberg, Erlangen, Germany PubMed articles Google scholar articles
Astrid Buchberger Department of Cell and Molecular Biology, Institute of Biochemistry and Biotechnology, University of Braunschweig, Braunschweig, Germany PubMed articles Google scholar articles
Walter Just Institute of Human Genetics, University of Ulm, Ulm, Germany PubMed articles Google scholar articles
Friederike Denzer Department of Pediatrics and Adolescent Medicine, University Hospital Ulm, Ulm, Germany PubMed articles Google scholar articles
Wolfgang Hoepffner University Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany PubMed articles Google scholar articles
James German Department of Pediatrics, Cornell University, New York, USA PubMed articles Google scholar articles
Trevor Cole Department of Medical and Molecular Genetics, University of Birmingham School of Medicine, Institute of Biomedical Research, Birmingham, UK PubMed articles Google scholar articles
Jillian Mann Department of Paediatric Oncology, Birmingham Children's Hospital, Birmingham, UK PubMed articles Google scholar articles
John H Seguin Pediatrix Medical Group of Ohio, Columbus, Ohio, USA PubMed articles Google scholar articles
William Zipf Central Ohio Pediatric Endocrinology and Diabetes Services (COPED), Columbus, Ohio, USA PubMed articles Google scholar articles
Colm Costigan National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Dublin, Ireland PubMed articles Google scholar articles
Hardi Schmiady Klinik für Gynäkologie, Charité, Frauenklinik Campus Virchow-Klinikum, Berlin, Germany PubMed articles Google scholar articles
Moritz Rostásy Institute of Human Genetics, University of Freiburg, Freiburg, Germany PubMed articles Google scholar articles
Mildred Kramer Institute of Human Genetics, University of Freiburg, Freiburg, Germany PubMed articles Google scholar articles
Simon Kaltenbach Institute of Human Genetics, University of Freiburg, Freiburg, Germany PubMed articles Google scholar articles
Bernd Rösler Institute of Human Genetics, University of Freiburg, Freiburg, Germany PubMed articles Google scholar articles
Ina Georg Institute of Human Genetics, University of Freiburg, Freiburg, Germany Area of Human DNA Variability, Centro de Genómica e Investigación Oncológica (GENYO), Pfizer-Universidad de Granada-Junta de Andalucia, Granada, Spain PubMed articles Google scholar articles
Elke Troppmann Institute of Human Genetics, University of Freiburg, Freiburg, Germany PubMed articles Google scholar articles
Anne-Christin Teichmann Institute of Human Genetics, University of Freiburg, Freiburg, Germany PubMed articles Google scholar articles
Anika Salfelder Department of Pediatrics, Centre for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany PubMed articles Google scholar articles
Sebastian A Widholz Institute of Biochemistry, University of Erlangen-Nürnberg, Erlangen, Germany PubMed articles Google scholar articles
Peter Wieacker Institute of Human Genetics, Westfälische Wilhelms Universität Münster, Münster, Germany PubMed articles Google scholar articles
Olaf Hiort Department of Pediatric and Adolescent Medicine, University of Lübeck, Lübeck, Germany PubMed articles Google scholar articles
Giovanna Camerino Dipartamento di Patologia Umana ed Ereditaria, Biologia Generale e Genetica Medica, Pavia, Italy PubMed articles Google scholar articles
Orietta Radi Dipartamento di Patologia Umana ed Ereditaria, Biologia Generale e Genetica Medica, Pavia, Italy PubMed articles Google scholar articles
Michael Wegner Institute of Biochemistry, University of Erlangen-Nürnberg, Erlangen, Germany PubMed articles Google scholar articles
Hans-Henning Arnold Department of Cell and Molecular Biology, Institute of Biochemistry and Biotechnology, University of Braunschweig, Braunschweig, Germany PubMed articles Google scholar articles
Gerd Scherer Institute of Human Genetics, University of Freiburg, Freiburg, Germany PubMed articles Google scholar articles

Correspondence to Dr Gwang-Jin Kim Institute of Human Genetics, University of Freiburg, Breisacherstr. 33, Freiburg D-79106, Germany; gwang-jin.kim{at}uniklinik-freiburg.de

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Citation

Kim G, Sock E, Buchberger A, et al

Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development

Journal of Medical Genetics 2015;52:240-247.

Publication history

Received October 30, 2014
Revised December 18, 2014
Accepted December 20, 2014
First published January 20, 2015.

Online issue publication

November 16, 2017

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