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Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay,intellectual disability,and epilepsy
Authors:Ambrin Fatima  Jan Hoeber  Jens Schuster  Eriko Koshimizu  Carolina Maya-Gonzalez  Boris Keren  Cyril Mignot  Talia Akram  Zafar Ali  Satoko Miyatake  Junpei Tanigawa  Takayoshi Koike  Mitsuhiro Kato  Yoshiko Murakami  Uzma Abdullah  Muhammad Akhtar Ali  Rein Fadoul  Loora Laan  Niklas Dahl
Affiliation:1. Department of Immunology, Genetics and Pathology, Uppsala University and Science for Life Laboratory, Box 815, 751 08 Uppsala, Sweden;2. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan;3. Center for Molecular and Chromosomal Genetics APHP, Sorbonne University, Pitié-Salpêtrière Hospital, 47-83 Boulevard de l’Hôpital, 75013 Paris, France;4. Human Molecular Genetics Laboratory, National Institute for Biotechnology and Genetic Engineering, Faisalabad 38000, Pakistan;5. Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Kanagawa 236-0004, Japan;6. Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka 565-0871, Japan;7. National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka 420-8688, Japan;8. Department of Pediatrics, Showa University School of Medicine, Tokyo 142-8666, Japan;9. Research Institute for Microbial Diseases, Osaka University, Osaka 565-0871, Japan;10. University Institute of Biochemistry and Biotechnology, PMAS-Arid Agriculture University, Rawalpindi 46301, Pakistan;11. School of Biological Sciences, University of the Punjab, Lahore 54590, Pakistan;12. Unit of Clinical Neurophysiology, Uppsala University Hospital, 751 85 Uppsala, Sweden;13. Department of Medical Cell Biology, Biomedical Centre, Uppsala University, 751 08 Uppsala, Sweden
Abstract:
Keywords:neurodevelopmental delay  intellectual disability  epilepsy  speech delay  neurite formation  mGluR5 signaling  missense variant
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