IDH2 Mutations in Patients with d -2-Hydroxyglutaric Aciduria

Author:

Kranendijk Martijn1,Struys Eduard A.1,van Schaftingen Emile2,Gibson K. Michael3,Kanhai Warsha A.1,van der Knaap Marjo S.4,Amiel Jeanne5,Buist Neil R.6,Das Anibh M.7,de Klerk Johannis B.8,Feigenbaum Annette S.9,Grange Dorothy K.10,Hofstede Floris C.11,Holme Elisabeth12,Kirk Edwin P.13,Korman Stanley H.14,Morava Eva15,Morris Andrew16,Smeitink Jan17,Sukhai Rám N.18,Vallance Hilary19,Jakobs Cornelis1,Salomons Gajja S.1

Affiliation:

1. Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, 1081 HV Amsterdam, Netherlands.

2. Laboratory of Physical Chemistry, de Duve Institute, Universite Catholique de Louvain, xxxx Louvain, Belgium.

3. Department of Biological Sciences, Michigan Technological University, Houghton, MI 49931, USA.

4. Department of Child Neurology, VU University Medical Center Amsterdam, xxxx Amsterdam, Netherlands.

5. Département de Génétique et INSERM U-781, Hôpital Necker, Université Paris Descartes, xxxx Paris, France.

6. Department of Pediatrics and Department of Medical Genetics, Oregon Health and Science University, Portland, OR 9xxxx, USA.

7. Paediatrische Stoffwechselmedizin, Hannover Medical School, xxxx Hannover, Germany.

8. Department Metabolic Diseases, ErasmusMC/Sophia Childrens Hospital, xxxx Rotterdam, Netherlands.

9. Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, ON xxxxx, Canada.

10. Division of Genetics and Genomic Medicine, Department of Pediatrics St. Louis Children’s Hospital, Washington University School of Medicine, St. Louis, MO xxxxx, USA.

11. Department of Metabolic Diseases, Wilhelmina Children’s Hospital, University Medical Centre Utrecht, xxxx Utrecht, Netherlands.

12. Department of Clinical Chemistry and Transfusion Medicine, Sahlgrenska University Hospital, University of Gothenburg, xxxx Gothenburg, Sweden.

13. Department of Medical Genetics, Sydney Children’s Hospital, Sydney, NSW xxxxx, Australia.

14. Department of Human Genetics and Metabolic Diseases, Hadassah - Hebrew University Medical Center, Jerusalem, Israel.

15. Department of Pediatrics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, Netherlands.

16. Great Ormond Street Hospital for Children National Health Service Trust, London xxxx, UK.

17. Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, Netherlands.

18. General Pediatrics, Leiden University Medical Center, xxxx Leiden, Netherlands.

19. Department of Pathology and Laboratory Medicine, BC Children’s Hospital, University of British Columbia, Vancouver, BC xxxxx, Canada.

Abstract

A mutation that changes the specificity of an enzyme in human cancer is also found in an inherited metabolic disorder.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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