Mitochondrial disease

Gene: SDHA

Green List (high evidence)

Multiple diseases entities associated with variants in this gene

Mitochondrial complex II deficiency: more than 5 unrelated families reported with bi-allelic variants.

DCM and bi-allelic variants: founder Bedouin variant, PMID 20551992.

NDAXOA and mono-allelic variants: 5 individuals from two unrelated families reported in PMIDs: 10976639;27683074. Most affected individuals presented in mid-adulthood with slowly progressive cerebellar and gait ataxia, optic atrophy, and myopathy or myalgia. Some had a childhood history of neurologic features, including limited extraocular movements. Additional features reported included cardiomyopathy, psychiatric disturbances, and peripheral sensory impairment.

Paragangliomas: well established gene-disease association.

Created: 19 Apr 2021, 6:22 a.m. | Last Modified: 19 Apr 2021, 6:22 a.m.

Panel Version: 0.7217

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex II deficiency, nuclear type 1, MIM# 252011; Cardiomyopathy, dilated, 1GG, MIM# 613642; Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259; Paragangliomas 5 , MIM#614165

Publications

• 10976639
• 27683074
• 7550341
• 22972948
• 20551992
• 21752896