Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia

Simone Schröder 1, Yun Li 2, Gökhan Yigit 2, Janine Altmüller 3, Ingrid Bader 4, Andrea Bevot 5, Saskia Biskup 6, Steffi Dreha-Kulaczewski 1, G Christoph Korenke 7, Raimund Kottke 8, Johannes A Mayr 9, Martin Preisel 9, Sandra P Toelle 10 Sarah Wente-Schulz 11, Saskia B Wortmann 9 12, Heidi Hahn 2, Eugen Boltshauser 10, Anja Uhmann 2, Bernd Wollnik 2 13, Knut Brockmann 14
  1. Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center, Göttingen, Germany.
  2. Institute of Human Genetics, University Medical Center, Göttingen, Germany.
  3. Cologne Center for Genomics, Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.
  4. Department of Clinical Genetics, University Children’s Hospital, Paracelsus Medical University, Salzburg, Austria.
  5. Department of Pediatric Neurology, University Hospital Tübingen, Tübingen, Germany.
  6. Praxis für Humangenetik Tübingen, Tübingen, Germany.
  7. Department of Pediatric Neurology, University Hospital Oldenburg, Oldenburg, Germany.
  8. Department of Diagnostic Imaging, University Children’s Hospital, Zurich, Switzerland.
  9. Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria.
  10. Department of Pediatric Neurology, University Children’s Hospital, Zurich, Switzerland.
  11. Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School Children’s Hospital, Hannover, Germany.
  12. Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children’s Hospital, Radboudumc, Nijmegen, The Netherlands.
  13. Cluster of Excellence “Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells” (MBExC), University of Göttingen, Göttingen, Germany.
  14. Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center, Göttingen, Germany. kbrock@med.uni-goettingen.de.