Nature Communications (Feb 2019)
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy
- Jennifer Friedman,
- Desiree E. Smith,
- Mahmoud Y. Issa,
- Valentina Stanley,
- Rengang Wang,
- Marisa I. Mendes,
- Meredith S. Wright,
- Kristen Wigby,
- Amber Hildreth,
- John R. Crawford,
- Alanna E. Koehler,
- Shimul Chowdhury,
- Shareef Nahas,
- Liting Zhai,
- Zhiwen Xu,
- Wing-Sze Lo,
- Kiely N. James,
- Damir Musaev,
- Andrea Accogli,
- Kether Guerrero,
- Luan T. Tran,
- Tarek E. I. Omar,
- Tawfeg Ben-Omran,
- David Dimmock,
- Stephen F. Kingsmore,
- Gajja S. Salomons,
- Maha S. Zaki,
- Geneviève Bernard,
- Joseph G. Gleeson
Affiliations
- Jennifer Friedman
- Department of Neurosciences, University of California San Diego
- Desiree E. Smith
- Department of Clinical Chemistry, Metabolic Unit, Amsterdam UMC (University Medical Centers), Vrije Universiteit Amsterdam
- Mahmoud Y. Issa
- Department of Clinical Genetics, National Research Centre
- Valentina Stanley
- Department of Neurosciences, University of California San Diego
- Rengang Wang
- Department of Neurosciences, University of California San Diego
- Marisa I. Mendes
- Department of Clinical Chemistry, Metabolic Unit, Amsterdam UMC (University Medical Centers), Vrije Universiteit Amsterdam
- Meredith S. Wright
- Rady Children’s Institute for Genomic Medicine, Rady Children’s Hospital
- Kristen Wigby
- Department of Pediatrics, University of California San Diego
- Amber Hildreth
- Department of Pediatrics, University of California San Diego
- John R. Crawford
- Department of Neurosciences, University of California San Diego
- Alanna E. Koehler
- Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego
- Shimul Chowdhury
- Rady Children’s Institute for Genomic Medicine, Rady Children’s Hospital
- Shareef Nahas
- Rady Children’s Institute for Genomic Medicine, Rady Children’s Hospital
- Liting Zhai
- IAS HKUST-Scripps R&D Laboratory, Institute for Advanced Study, Hong Kong University of Science and Technology
- Zhiwen Xu
- IAS HKUST-Scripps R&D Laboratory, Institute for Advanced Study, Hong Kong University of Science and Technology
- Wing-Sze Lo
- IAS HKUST-Scripps R&D Laboratory, Institute for Advanced Study, Hong Kong University of Science and Technology
- Kiely N. James
- Department of Neurosciences, University of California San Diego
- Damir Musaev
- Department of Neurosciences, University of California San Diego
- Andrea Accogli
- Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University
- Kether Guerrero
- Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University
- Luan T. Tran
- Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University
- Tarek E. I. Omar
- Department of Pediatrics, Alexandria University
- Tawfeg Ben-Omran
- Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation
- David Dimmock
- Rady Children’s Institute for Genomic Medicine, Rady Children’s Hospital
- Stephen F. Kingsmore
- Rady Children’s Institute for Genomic Medicine, Rady Children’s Hospital
- Gajja S. Salomons
- Department of Clinical Chemistry, Metabolic Unit, Amsterdam UMC (University Medical Centers), Vrije Universiteit Amsterdam
- Maha S. Zaki
- Department of Clinical Genetics, National Research Centre
- Geneviève Bernard
- Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University
- Joseph G. Gleeson
- Department of Neurosciences, University of California San Diego
- DOI
- https://doi.org/10.1038/s41467-018-07067-3
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 10
Abstract
Valyl-tRNA synthetase (VARS) charges valyl-tRNA with the amino acid valine, required for translation. Here, the authors describe a progressive epileptic encephalopathy in individuals from five families carrying biallelic mutations in the VARS gene that leave the enzyme activity partially intact.
