Mitochondrial disease

Gene: ACO2

Green List (high evidence)

PMID: 34056600
- Cohorts of individuals with genetically unsolved inherited optic neuropathies. 61 cases identified with ACO2 variants, 50 of these cases carried dominant mutations.
- Ophthalmological and clinical data revealed that recessive cases are affected more severely than dominant cases, while not significantly earlier.
- 3/11 of the recessive cases and 6/50 of the dominant cases manifested with extraocular features in addition to optic atrophy.

Created: 23 Feb 2024, 1:14 a.m. | Last Modified: 23 Feb 2024, 1:14 a.m.

Panel Version: 0.916

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Optic atrophy 9, MIM# 616289

Publications

• PMID: 34056600

Green List (high evidence)

At least 10 unrelated families reported. I am not convinced this gene causes two separate disorders, more likely a spectrum. OA has been reported as an isolated finding in one family, and a feature of a more complex and severe neurological presentation in the rest.

Created: 29 Nov 2021, 2:53 a.m. | Last Modified: 29 Nov 2021, 2:53 a.m.

Panel Version: 0.664

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Infantile cerebellar-retinal degeneration, MIM#614559; Optic atrophy 9, MIM# 616289

Publications

• 22405087
• 25351951
• 30689204
• 32519519
• 25351951