Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

Author:

Alcantara Diana1,Timms Andrew E2,Gripp Karen34,Baker Laura34,Park Kaylee5,Collins Sarah5,Cheng Chi5,Stewart Fiona6,Mehta Sarju G7,Saggar Anand8,Sztriha László9,Zombor Melinda9,Caluseriu Oana10,Mesterman Ronit11,Van Allen Margot I1213,Jacquinet Adeline14,Ygberg Sofia15,Bernstein Jonathan A16,Wenger Aaron M16,Guturu Harendra16,Bejerano Gill161718,Gomez-Ospina Natalia16,Lehman Anna12,Alfei Enrico19,Pantaleoni Chiara19,Conti Valerio20,Guerrini Renzo2021,Moog Ute22,Graham Jr. John M23,Hevner Robert524,Dobyns William B525,O’Driscoll Mark1,Mirzaa Ghayda M525

Affiliation:

1. Genome Damage and Stability Centre, University of Sussex, Sussex, UK

2. Center for Developmental Biology and Regenerative Medicine, Seattle Children’s Research Institute, Seattle, WA, USA

3. Department of Pediatrics, Sidney Kimmel Medical School, Thomas Jefferson University, Philadelphia, Pennsylvania, USA

4. Division of Medical Genetics, A.I. duPont Hospital for Children, Wilmington, Delaware, USA

5. Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, Washington, USA

6. Belfast Health and Social Care Trust, Belfast, Northern Ireland, UK

7. East Anglian Medical Genetics Service, Addenbrookes Hospital, Cambridge, UK

8. South West Thames Regional Genetic Services, St. George’s NHS Trust and St. George’s Hospital Medical School, London, UK

9. Department of Pediatrics, University of Szeged, Szeged, Hungary

10. Department of Medical Genetics, Department of Pediatrics, University of Alberta, Edmonton, AB, Canada

11. Division of Pediatric Neurology, Developmental Pediatric Rehabilitation and Autism Spectrum Disorder, McMaster University, Hamilton, ON, Canada

12. Department of Medical Genetics, University of British Columbia, Vancouver, Canada

13. B.C. Children’s Hospital Research Centre, Vancouver, BC Canada

14. Center for Human Genetics, Centre Hospitalier Universitaire and University of Liège, Liège, Belgium

15. Neuropediatric Unit and Centre for Inherited Metabolic Diseases (CMMS), Karolinska University Hospital, Stockholm, Sweden

16. Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA

17. Department of Computer Science, School of Engineering, Stanford University School of Medicine, Stanford, California, USA

18. Department of Developmental Biology, School of Medicine, Stanford University School of Medicine, Stanford, California, USA

19. Developmental Neurology Unit, Department of Pediatric Neurosciences, Carlo Besta Neurological Institute, IRCCS Foundation, Milan, Italy

20. Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, A. Meyer Children’s Hospital, Florence, Italy

21. IRCCS Stella Maris, Pisa, Italy

22. Institute of Human Genetics, Heidelberg University, Heidelberg, Germany

23. Department of Pediatrics, Cedars-Sinai Medical Center, Harbor-UCLA Medical Center, David Geffen School of Medicine Los Angeles, California, USA

24. Department of Neurological Surgery, University of Washington, Seattle, Washington, USA

25. Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA

Funder

National Institute of Neurological Disorders and Stroke (NINDS)

National Heart, Lung and Blood Institute (NHLBI)

National Institutes of Health (NIH)

Cancer Research UK Programme award

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Reference36 articles.

1. Activating AKT2 mutation: hypoinsulinemic hypoketotic hypoglycemia;Arya;J Clin Endocrinol Metab,2014

2. An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development;Baek;Nat Med,2015

3. A developmental and genetic classification for malformations of cortical development: update 2012;Barkovich;Brain,2012

4. A transforming mutation in the pleckstrin homology domain of AKT1 in cancer;Carpten;Nature,2007

5. Insulin resistance and a diabetes mellitus-like syndrome in mice lacking the protein kinase Akt2 (PKB beta);Cho;Science,2001

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