Mitochondrial disease

Gene: SLC25A12

Green List (high evidence)

Developmental and epileptic encephalopathy-39 (DEE39) is an autosomal recessive neurologic syndrome characterized clinically by global developmental delay apparent in early infancy, early-onset seizures, hypotonia with poor motor function, and hypomyelination on brain imaging. Other features include absent speech and inability to walk; spasticity and hyperreflexia has also been reported. Although there is significant hypomyelination on brain imaging, the disorder is not classified as a primary leukodystrophy. The myelination defect most likely stems from primary neuronal dysfunction due to impaired mitochondrial transport activity, reviewed in PMID 35008954.

Multiple families and functional data, including mouse model.

The SLC25A12 gene encodes aralar, a protein that functions in the transport of aspartate from mitochondria to cytosol in exchange for glutamate. Aralar also plays a role in the transfer of cytosolic reducing equivalents into mitochondria as a member of the malate-aspartate NADH shuttle.

Created: 11 Apr 2022, 12:10 a.m. | Last Modified: 25 Oct 2024, 7:52 a.m.

Panel Version: 0.940

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental and epileptic encephalopathy 39, MIM# 612949

Publications

• 19641205
• 24515575
• 35008954
• 32700846
• 31766059
• 31514314