Nature Communications (Oct 2017)
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability
- M. R. F. Reijnders,
- M. Kousi,
- G. M. van Woerden,
- M. Klein,
- J. Bralten,
- G. M. S. Mancini,
- T. van Essen,
- M. Proietti-Onori,
- E. E. J. Smeets,
- M. van Gastel,
- A. P. A. Stegmann,
- S. J. C. Stevens,
- S. H. Lelieveld,
- C. Gilissen,
- R. Pfundt,
- P. L. Tan,
- T. Kleefstra,
- B. Franke,
- Y. Elgersma,
- N. Katsanis,
- H. G. Brunner
Affiliations
- M. R. F. Reijnders
- Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour
- M. Kousi
- Center for Human Disease Modeling, Duke University
- G. M. van Woerden
- Department of Neuroscience and ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center
- M. Klein
- Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour
- J. Bralten
- Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour
- G. M. S. Mancini
- Department of Clinical Genetics, Erasmus MC, Sophia Children’s Hospital
- T. van Essen
- Department of Genetics, University of Groningen, University Medical Center of Groningen
- M. Proietti-Onori
- Department of Neuroscience and ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center
- E. E. J. Smeets
- Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center
- M. van Gastel
- Department of Medical Care, SWZ zorg
- A. P. A. Stegmann
- Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center
- S. J. C. Stevens
- Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center
- S. H. Lelieveld
- Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center
- C. Gilissen
- Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour
- R. Pfundt
- Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour
- P. L. Tan
- Center for Human Disease Modeling, Duke University
- T. Kleefstra
- Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour
- B. Franke
- Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour
- Y. Elgersma
- Department of Neuroscience and ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center
- N. Katsanis
- Center for Human Disease Modeling, Duke University
- H. G. Brunner
- Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour
- DOI
- https://doi.org/10.1038/s41467-017-00933-6
- Journal volume & issue
-
Vol. 8,
no. 1
pp. 1 – 12
Abstract
The mTOR pathway is a key regulator of normal brain development. Here, the authors identify de novo mutations in RHEB, an mTOR activator protein, in patients with intellectual disability associated with megalencephaly and find a role for RHEB in regulating neuronal soma size and migration in vitro and in vivo.
