About the Authors

Karolina Kobus

kolanshy@molgen.mpg.de (MK); kobus@molgen.mp.de (KK)

Affiliations Institute for Medical Genetics and Human Genetics, Charité, Universitätsmedizin Berlin, Berlin, Germany, Max Planck Institute for Molecular Genetics, FG Development & Disease, Berlin, Germany

Daniela Hartl

Affiliation Institute for Medical Genetics and Human Genetics, Charité, Universitätsmedizin Berlin, Berlin, Germany

Claus Eric Ott

Affiliation Max Planck Institute for Molecular Genetics, FG Development & Disease, Berlin, Germany

Monika Osswald

Affiliation Max Planck Institute for Molecular Genetics, FG Development & Disease, Berlin, Germany

Angela Huebner

Affiliation Klinik für Kinder- und Jugendmedizin, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany

Maja von der Hagen

Affiliation Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany

Denise Emmerich

Affiliation Max Planck Institute for Molecular Genetics, FG Development & Disease, Berlin, Germany

Jirko Kühnisch

Affiliations Institute for Medical Genetics and Human Genetics, Charité, Universitätsmedizin Berlin, Berlin, Germany, Max Planck Institute for Molecular Genetics, FG Development & Disease, Berlin, Germany

Hans Morreau

Affiliation Department of Pathology, Leiden University Center, Albinusdreef 2, 2333ZA, Leiden, The Netherlands

Frederik J. Hes

Affiliation Department of Clinical Genetics, Leiden University Center, Albinusdreef 2, 2333ZA, Leiden, The Netherlands

Victor F. Mautner

Affiliation Department of Maxillofacial Surgery, University Hospital Eppendorf, Hamburg, Germany

Anja Harder

Affiliation Institute of Neuropathology, University Hospital Münster, Münster, Germany

Sigrid Tinschert

Affiliation Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University Innsbruck, Innsbruck, Austria

Stefan Mundlos

Affiliations Institute for Medical Genetics and Human Genetics, Charité, Universitätsmedizin Berlin, Berlin, Germany, Max Planck Institute for Molecular Genetics, FG Development & Disease, Berlin, Germany, Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Berlin, Germany

Mateusz Kolanczyk

kolanshy@molgen.mpg.de (MK); kobus@molgen.mp.de (KK)

Affiliations Institute for Medical Genetics and Human Genetics, Charité, Universitätsmedizin Berlin, Berlin, Germany, Max Planck Institute for Molecular Genetics, FG Development & Disease, Berlin, Germany

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Performed the experiments: KK DH CEO MO MV DE MK A. Huebner MH. Analyzed the data: MK KK. Contributed reagents/materials/analysis tools: A. Huebner VFM FJH HM JK KK. Wrote the paper: SM ST VFM MK HM JK MH. Designed the experiments: MK KK. Performed genotyping and Western blot analysis: MO. Provided clinical and genetic data and patient material: HM FH VFM. Provided histopathological analysis: A. Harder.