Back to Search
Start Over
De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype
- Source :
- Journal of Neurogenetics. 35:67-73
- Publication Year :
- 2021
- Publisher :
- Informa UK Limited, 2021.
-
Abstract
- The SLC25A22 (Solute Carrier Family 25, Member 22) gene encodes for a mitochondrial glutamate/H+ symporter and is involved in the mitochondrial transport of metabolites across the mitochondrial membrane. We hereby report a 12-year-old girl presenting with early-onset epileptic encephalopathy, hypotonia, and global developmental delay. Whole exome sequencing identified a novel homozygous missense mutation in SLC25A22 gene (c.97A>G; p.Lys33Glu), as the likely cause of the disease. The phenotype of our patient and EEG recordings do not completely overlap with the phenotypes previously described, leading to a new and more complex form of disease associated with SLC25A22 variants, characterized by dyskinetic movements and oculogyric crisis.
- Subjects :
- 0301 basic medicine
Genetics
Oculogyric crisis
Dyskinetic movements
SLC25A22 gene
epileptic encephalopathy
glutamate
oculogyric crisis
Biology
medicine.disease
Hypotonia
3. Good health
Solute carrier family
03 medical and health sciences
Cellular and Molecular Neuroscience
030104 developmental biology
0302 clinical medicine
Symporter
medicine
Missense mutation
medicine.symptom
Inner mitochondrial membrane
030217 neurology & neurosurgery
Mitochondrial transport
Exome sequencing
Subjects
Details
- ISSN :
- 15635260 and 01677063
- Volume :
- 35
- Database :
- OpenAIRE
- Journal :
- Journal of Neurogenetics
- Accession number :
- edsair.doi.dedup.....bdb064976d7405a60e06ee8703d07725