About the Authors

Barbara D'haene

Contributed equally to this work with: Barbara D'haene, Catia Attanasio, Diane Beysen

Affiliation Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium

Catia Attanasio

Contributed equally to this work with: Barbara D'haene, Catia Attanasio, Diane Beysen

Affiliation Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland

Diane Beysen

Contributed equally to this work with: Barbara D'haene, Catia Attanasio, Diane Beysen

Affiliation Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium

Josée Dostie

Affiliation Program in Gene Function and Expression and Department of Biochemistry and Molecular Pharmacology, University of Massachusetts Medical School, Worcester, Massachusetts, United States of America

Edmond Lemire

Affiliation Division of Medical Genetics, Royal University Hospital, Saskatoon, Saskatchewan, Canada

Philippe Bouchard

Affiliation Reproductive Endocrine Unit, Hôpital Saint-Antoine, Paris, France

Michael Field

Affiliation Royal North Shore Hospital, Sydney, Australia

Kristie Jones

Affiliation Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, Australia

Birgit Lorenz

Affiliation Department of Ophthalmology, Justus-Liebig-University Giessen, Universitaetsklinikum Giessen und Marburg GmbH Giessen Campus, Giessen, Germany

Björn Menten

Affiliation Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium

Karen Buysse

Affiliation Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium

Filip Pattyn

Affiliation Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium

Marc Friedli

Affiliation Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland

Catherine Ucla

Affiliation Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland

Colette Rossier

Affiliation Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland

Carine Wyss

Affiliation Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland

Frank Speleman

Affiliation Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium

Anne De Paepe

Affiliation Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium

Job Dekker

Affiliation Program in Gene Function and Expression and Department of Biochemistry and Molecular Pharmacology, University of Massachusetts Medical School, Worcester, Massachusetts, United States of America

Stylianos E. Antonarakis

Affiliation Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland

Elfride De Baere

Elfride.DeBaere@UGent.be

Affiliation Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: B. D'Haene, C. Attanasio, D. Beysen, S. Antonarakis, E. De Baere. Performed the experiments: B. D'Haene, C. Attanasio, D. Beysen, M. Friedli, C. Ucla, C. Rossier, C. Wyss. Analyzed the data: B. D'Haene, C. Attanasio, D. Beysen, J. Dostie, B. Menten, K. Buysee, F. Pattyn, M. Friedli, J. Dekker, E. De Baere. Contributed reagents/materials/analysis tools: B. D'Haene, J. Dostie, E. Lemire, P. Bouchard, M. Field, K. Jones, B. Lorenz, B. Menten, K. Buysee, F. Pattyn, F. Speleman, A. De Paepe, J. Dekker. Wrote the paper: B. D'Haene, C. Attanasio, D. Beysen, J. Dekker, E. De Baere. Experimental work (microsatellite analysis, aCGH, qPCR-3q23, characterization of 7.4 kb deletion, bio-informatics, cloning of human PISRT1 (RACE)): B. D'haene. Experimental work (qPCR-CNC, CNC sequencing, luciferase constructs and assays): C. Attanasio. Experimental work (3C): D. Beysen. Recruited individuals and families affected with BPES: E. De Baere.