Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

Author:

Ng Bobby G.1ORCID,Eklund Erik A.12,Shiryaev Sergey A.1,Dong Yin Y.3,Abbott Mary‐Alice4,Asteggiano Carla56,Bamshad Michael J.78,Barr Eileen9,Bernstein Jonathan A.1011,Chelakkadan Shabeed12,Christodoulou John131415,Chung Wendy K.1617,Ciliberto Michael A.18,Cousin Janice19,Gardiner Fiona20,Ghosh Suman21,Graf William D.22,Grunewald Stephanie23,Hammond Katherine24,Hauser Natalie S.25,Hoganson George E.26,Houck Kimberly M.27,Kohler Jennefer N.1028,Morava Eva29,Larson Austin A.30,Liu Pengfei3132,Madathil Sujana18,McCormack Colleen1028,Meeks Naomi J.L.30,Miller Rebecca25,Monaghan Kristin G.33,Nickerson Deborah A.8,Palculict Timothy Blake33,Papazoglu Gabriela Magali5,Pletcher Beth A.34,Scheffer Ingrid E.2035,Schenone Andrea Beatriz36,Schnur Rhonda E.33,Si Yue33,Rowe Leah J.30,Serrano Russi Alvaro H.3738,Russo Rossana Sanchez9,Thabet Farouq39,Tuite Allysa34,Villanueva María Mercedes36,Wang Raymond Y.4041,Webster Richard I.4243,Wilson Dorcas4445,Zalan Alice26,Wolfe Lynne A.46,Rosenfeld Jill A.3132,Rhodes Lindsay33,Freeze Hudson H.1,

Affiliation:

1. Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute La Jolla California USA

2. Department of Clinical Sciences, Lund, Pediatrics Lund University Lund Sweden

3. Nuffield Department of Clinical Neurosciences University of Oxford Oxford UK

4. Department of Pediatrics Baystate Children's Hospital, University of Massachusetts Medical School – Baystate Springfield Massachusetts USA

5. CEMECO—CONICET, Children Hospital, School of Medicine, National University of Cordoba Cordoba Argentina

6. Chair of Pharmacology, Catholic University of Cordoba Cordoba Argentina

7. Department of Pediatrics University of Washington Seattle Washington USA

8. Department of Genome Sciences University of Washington Seattle Washington USA

9. Department of Human Genetics Emory University Atlanta Georgia USA

10. Stanford University School of Medicine Stanford California USA

11. Stanford Center for Undiagnosed Diseases, Stanford University Stanford California USA

12. Monash Children's Hospital Melbourne Australia

13. Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital Melbourne Australia

14. Department of Paediatrics University of Melbourne Melbourne Australia

15. Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney Sydney Australia

16. Department of Pediatrics Columbia University New York New York USA

17. Department of Medicine Columbia University New York New York USA

18. Department of Pediatrics University of Iowa Hospitals and Clinics Iowa City Iowa USA

19. Section of Human Biochemical Genetics, National Human Genome Research Institute Bethesda Maryland USA

20. University of Melbourne, Austin Health Melbourne Australia

21. Department of Pediatrics Division of Pediatric Neurology University of Florida College of Medicine Gainesville Florida USA

22. Division of Pediatric Neurology, Department of Pediatrics Connecticut Children's; University of Connecticut Farmington Connecticut USA

23. Metabolic Medicine Department Great Ormond Street Hospital, Institute of Child Health University College London, NIHR Biomedical Research Center London UK

24. Division of Pediatric Neurology, Department of Pediatrics University of Alabama at Birmingham Birmingham Alabama USA

25. Inova Translational Medicine Institute Division of Medical Genomics Inova Fairfax Hospital Falls Church Virginia USA

26. Department of Pediatrics University of Illinois at Chicago Chicago Illinois USA

27. Department of Pediatrics Section of Neurology and Developmental Neuroscience, Baylor College of Medicine Houston Texas USA

28. Division of Cardiovascular Medicine, Department of Medicine Stanford University School of Medicine Stanford California USA

29. Department of Clinical Genomics Mayo Clinic Rochester Minnesota USA

30. Section of Clinical Genetics and Metabolism, Department of Pediatrics University of Colorado, Anschutz Medical Campus Aurora Colorado USA

31. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA

32. Baylor Genetics Laboratories Houston Texas USA

33. GeneDx, Inc. Laboratory Gaithersburg Maryland USA

34. Department of Pediatrics Rutgers New Jersey Medical School Newark New Jersey USA

35. University of Melbourne, Royal Children's Hospital, Florey and Murdoch Institutes Melbourne Australia

36. Laboratorio de Neuroquimica "Dr. N. A. Chamoles”—FESEN Buenos Aires Argentina

37. Division of Medical Genetics Children's Hospital Los Angeles University of Southern California Los Angeles California USA

38. Keck School of Medicine, University of Southern California Los Angeles California USA

39. MercyOne Pediatric Neurology Des Moines Iowa USA

40. Division of Metabolic Disorders Children's Hospital of Orange County Orange California USA

41. Department of Pediatrics University of California‐Irvine Orange California USA

42. T.Y. Nelson Department of Neurology and Neurosurgery The Children's Hospital Westmead Australia

43. Kids Neuroscience Centre, The Children's Hospital Westmead Australia

44. Netcare Sunninghill Hospital Sandton South Africa

45. Nelson Mandela Children's Hospital Johannesburg South Africa

46. Undiagnosed Diseases Program, Common Fund, National Institutes of Health Bethesda Maryland USA

Funder

Simons Foundation Autism Research Initiative

JPB Foundation

Region Skåne

National Institutes of Health

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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