Ataxia - paediatric
Gene: MARS2
Variable age at onset (range 2 to 59 years, mean 24 years). Complex duplication rearrangements the only cause reported to date.
Sources: Expert listCreated: 16 Apr 2020, 11:46 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 3, autosomal recessive MIM#611390
1 family with 2 sibs with combined oxidative phosphorylation deficiency-25 (with ID) with compound heterozygous mutations in the MARS2 gene. Patient fibroblasts showed decreased activities of mitochondrial complexes I and IV, consistent with a mitochondrial translation defect. Immunoblot analysis showed reduced MARS2 protein levels as well as reduced levels of selected subunits of complexes I and IV. Spastic ataxia association: note complex chromosomal rearrangements rather than SNVs reported in group of 54 French Canadians.Created: 5 Dec 2019, 3:47 a.m. | Last Modified: 14 Apr 2020, 2:16 a.m.
Panel Version: 0.2259
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 25, OMIM #616430; Spastic ataxia 3, autosomal recessive, OMIM #611390
Publications
Gene: mars2 has been classified as Green List (High Evidence).
Gene: mars2 has been classified as Green List (High Evidence).
gene: MARS2 was added gene: MARS2 was added to Ataxia - paediatric. Sources: Expert list SV/CNV tags were added to gene: MARS2. Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive MIM#611390 Review for gene: MARS2 was set to GREEN