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Neurogenetics
Original research
CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression

Authors

  • Xuanye Cao Center for Precision Environmental Health, Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas, USA PubMed articlesGoogle scholar articles
  • Annika Wolf Department of Pediatric Neurology, University Medical Center Göttingen, Gottingen, Niedersachsen, Germany PubMed articlesGoogle scholar articles
  • Sung-Eun Kim Department of Pediatrics, University of Texas at Austin, Austin, Texas, USA PubMed articlesGoogle scholar articles
  • Robert M. Cabrera Center for Precision Environmental Health, Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas, USA PubMed articlesGoogle scholar articles
  • Bogdan J. Wlodarczyk Center for Precision Environmental Health, Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas, USA PubMed articlesGoogle scholar articles
  • Huiping Zhu Department of Nutritional Sciences, University of Texas at Austin Dell Medical School, Austin, Texas, USA PubMed articlesGoogle scholar articles
  • Margaret Parker Department of Pediatrics, University of Texas at Austin, Austin, Texas, USA PubMed articlesGoogle scholar articles
  • Ying Lin Center for Precision Environmental Health, Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas, USA PubMed articlesGoogle scholar articles
  • John W. Steele Center for Precision Environmental Health, Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas, USA Institute for Cell and Molecular Biology, The University of Texas at Austin, Austin, Texas, USA PubMed articlesGoogle scholar articles
  • Xiao Han Center for Precision Environmental Health, Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas, USA PubMed articlesGoogle scholar articles
  • Vincent Th Ramaekers Department of Pediatric Neurology, University Hospital Center Liège, Liège, Belgium PubMed articlesGoogle scholar articles
  • Robert Steinfeld Department of Pediatric Neurology, University Medical Center Göttingen, Gottingen, Niedersachsen, Germany University Children’s Hospital Zurich, Zurich, Switzerland PubMed articlesGoogle scholar articles
  • Richard H. Finnell Department of Pediatrics, University of Texas at Austin, Austin, Texas, USA Center for Precision Environmental Health, Departments of Molecular and Cellular Biology and Medicine, Houston, Texas, USA Departments of Molecular and Human Genetics and Medicine, Baylor College of Medicine, Houston, Texas, USA PubMed articlesGoogle scholar articles
  • Yunping Lei Center for Precision Environmental Health, Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas, USA PubMed articlesGoogle scholar articles
  1. Correspondence to Dr. Yunping Lei, Baylor College of Medicine, Houston, Texas, USA; yunpinglei{at}gmail.com; Dr. Richard H. Finnell; richard.finnell{at}bcm.edu; Dr. Robert Steinfeld; Robert.Steinfeld{at}kispi.uzh.ch
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Citation

Cao X, Wolf A, Kim S, et al
CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression
Journal of Medical Genetics 2021;58:484-494.

Publication history

  • Received March 10, 2020
  • Revised May 27, 2020
  • Accepted June 5, 2020
  • First published August 20, 2020.
Online issue publication 
January 10, 2022

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© Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.