Research ArticleHUMAN GENETICS

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

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Science Advances  25 Sep 2019:
Vol. 5, no. 9, eaax2166
DOI: 10.1126/sciadv.aax2166

Article Information

vol. 5 no. 9

Online ISSN: 
History: 
  • Received for publication March 8, 2019
  • Accepted for publication August 27, 2019
  • .

Author Information

  1. Hui Guo1,2,*,,
  2. Ying Li1,*,,
  3. Lu Shen1,*,
  4. Tianyun Wang1,2,
  5. Xiangbin Jia1,
  6. Lijuan Liu3,
  7. Tao Xu4,
  8. Mengzhu Ou3,
  9. Kendra Hoekzema2,
  10. Huidan Wu1,
  11. Madelyn A. Gillentine2,
  12. Cenying Liu1,
  13. Hailun Ni1,
  14. Pengwei Peng1,
  15. Rongjuan Zhao1,
  16. Yu Zhang5,
  17. Chanika Phornphutkul6,
  18. Alexander P. A. Stegmann7,
  19. Carlos E. Prada8,
  20. Robert J. Hopkin8,
  21. Joseph T. Shieh9,
  22. Kirsty McWalter10,
  23. Kristin G. Monaghan10,
  24. Peter M. van Hasselt11,
  25. Koen van Gassen11,
  26. Ting Bai1,
  27. Min Long1,
  28. Lin Han1,
  29. Yingting Quan1,
  30. Meilin Chen1,
  31. Yaowen Zhang1,
  32. Kuokuo Li1,
  33. Qiumeng Zhang1,
  34. Jieqiong Tan1,
  35. Tengfei Zhu1,
  36. Yaning Liu1,
  37. Nan Pang12,
  38. Jing Peng12,
  39. Daryl A. Scott13,14,
  40. Seema R. Lalani13,
  41. Mahshid Azamian13,
  42. Grazia M. S. Mancini15,
  43. Darius J. Adams16,
  44. Malin Kvarnung17,18,
  45. Anna Lindstrand17,18,
  46. Ann Nordgren17,18,
  47. Jonathan Pevsner19,20,
  48. Ikeoluwa A. Osei-Owusu19,20,
  49. Corrado Romano21,
  50. Giuseppe Calabrese21,
  51. Ornella Galesi21,
  52. Jozef Gecz22,
  53. Eric Haan23,
  54. Judith Ranells24,
  55. Melissa Racobaldo24,
  56. Magnus Nordenskjold17,18,
  57. Suneeta Madan-Khetarpal25,
  58. Jessica Sebastian25,
  59. Susie Ball26,
  60. Xiaobing Zou27,
  61. Jingping Zhao28,
  62. Zhengmao Hu1,
  63. Fan Xia13,29,
  64. Pengfei Liu13,29,
  65. Jill A. Rosenfeld13,
  66. Bert B. A. de Vries30,
  67. Raphael A. Bernier31,
  68. Zhi-Qing David Xu4,
  69. Honghui Li5,
  70. Wei Xie3,
  71. Robert B. Hufnagel32,,
  72. Evan E. Eichler2,33, and
  73. Kun Xia1,34,35,36,
  1. 1Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
  2. 2Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
  3. 3Institute of Life Sciences, Key Laboratory of Developmental Genes and Human Disease, Southeast University, Nanjing, Jiangsu, China.
  4. 4Department of Neurobiology, Beijing Key Laboratory of Neural Regeneration and Repair, Beijing Laboratory of Brain Disorders (Ministry of Science and Technology), Beijing Institute of Brain Disorders, Capital Medical University, Beijing, China.
  5. 5Key Laboratory of Developmental Disorders in Children, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou, Guangxi, China.
  6. 6Division of Human Genetics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital/Rhode Island Hospital, Providence, RI, USA.
  7. 7Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.
  8. 8Department of Pediatrics, University of Cincinnati College of Medicine, Division of Human Genetics, Cincinnati Children’s Hospital, Cincinnati, OH, USA.
  9. 9Institute for Human Genetics and Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.
  10. 10GeneDx, Gaithersburg, MD, USA.
  11. 11University Medical Center Utrecht, Utrecht, Netherlands.
  12. 12Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, China.
  13. 13Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  14. 14Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA.
  15. 15Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.
  16. 16Goryeb Children’s Hospital, Atlantic Health System, Morristown, NJ, USA.
  17. 17Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.
  18. 18Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  19. 19Department of Neurology, Kennedy Krieger Institute, Baltimore, MD, USA.
  20. 20Program in Human Genetics, Johns Hopkins School of Medicine, Baltimore, MD, USA.
  21. 21Oasi Research Institute–IRCCS, Troina, Italy.
  22. 22School of Medicine and the Robinson Research Institute, University of Adelaide at the Women’s and Children’s Hospital, Adelaide, South Australia, Australia.
  23. 23Adult Genetics Unit, Royal Adelaide Hospital, and School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.
  24. 24Department of Pediatrics, University of South Florida, Tampa, FL, USA.
  25. 25Division of Medical Genetics, Children’s Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.
  26. 26Central Washington Genetics Program, Virginia Mason Memorial, Yakima, WA, USA.
  27. 27Children Development Behavior Center of the Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, China.
  28. 28Mental Health Institute of the Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
  29. 29Baylor Genetics, Houston, TX, USA.
  30. 30Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.
  31. 31Department of Psychiatry, University of Washington, Seattle, WA, USA.
  32. 32Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, MD, USA.
  33. 33Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.
  34. 34Key Laboratory of Medical Information Research, Central South University, Changsha, Hunan, China.
  35. 35CAS Center for Excellence in Brain Science and Intelligences Technology (CEBSIT), Chinese Academy of Sciences, Shanghai 200030, China.
  36. 36Hunan Key Laboratory of Animal Models for Human Diseases, Central South University, Changsha, Hunan 410078, China.
  1. Corresponding author. Email: guohui{at}sklmg.edu.cn (H.G.); robert.hufnagel{at}nih.gov (R.B.H.); eee{at}gs.washington.edu (E.E.E.); xiakun{at}sklmg.edu.cn (K.X.)
  • * These authors contributed equally to this work.

  • Present address: State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 300020 Tianjin, China.

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