Intellectual disability syndromic and non-syndromic
Gene: DARS2

DARS2 (aspartyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000117593
EnsemblGeneIds (GRCh37): ENSG00000117593
OMIM: 610956, Gene2Phenotype
DARS2 is in 12 panels

1 review

Sumudu Perera (Royal Melbourne Hospital)

Green List (high evidence)

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is defined on the basis of a highly characteristic constellation of abnormalities observed by magnetic resonance imaging and spectroscopy (Scheper et al., 2007; PMID: 17384640). Affected individuals develop slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, sometimes with a mild cognitive deficit or decline.

Phenotype:
Miyake et al (2011) (PMID: 21815884) described a 21-year-old proband developed truncal ataxia at age 3 years, followed by nystagmus, slurred speech, tremor, spasticity, and mental retardation; he could speak only 1 or 2 words.

Genereviews (PMID: 20506600): "Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is characterized by slowly progressive cerebellar ataxia and spasticity with dorsal column dysfunction (decreased position and vibration sense) in most individuals. The neurologic dysfunction involves the legs more than the arms. The tendon reflexes are retained. Deterioration of motor skills usually starts in childhood or adolescence, but occasionally not until adulthood. Dysarthria develops over time. Occasional findings include epilepsy; learning problems; cognitive decline; and reduced consciousness, neurologic deterioration, and fever following minor head trauma."
Created: 29 Aug 2024, 6:45 a.m. | Last Modified: 29 Aug 2024, 6:45 a.m.

Panel Version: 0.6123

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105

Publications

Created: 29 Aug 2024, 6:45 a.m.
Last Modified: 29 Aug 2024, 6:45 a.m.
Panel version: 0.6123

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genetic Health Queensland

Phenotypes

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105

OMIM

610956

Clinvar variants

Variants in DARS2

Penetrance

None

Publications

Panels with this gene