Table 2.
Mutations in nuclear genes associated with mitochondrial complex II deficiency. Adapted and modified from [21].
| Mutated Gene | Molecular Role | Main Clinical Features | OMIM Number |
|---|---|---|---|
| SDHA | Subunit | Mitochondrial complex II deficiency; Leigh syndrome; Dilated cardiomyopathy; Paragangliomas. | 600857 614165 |
| SDHB | Subunit | Gastrointestinal stromal tumors; Paragangliomas; Pheochromocytomas; Mitochondrial complex II deficiency;Leukodystrophy. |
185470 115310 |
| SDHC | Subunit | Gastrointestinal stromal tumors; Paragangliomas. |
602413 605373 |
| SDHD | Subunit | Gastrointestinal stromal tumors; Paragangliomas; Pheochromocytomas; Mitochondrial complex II deficiency. Encephalomyopathy;Prenatal hypertrophic cardiomyopathy. |
602690 |
| SDHAF1 | Assembly Factor | Mitochondrial complex II deficiency; Leukoencephalopathy. | 612848 |
| SDHAF2 | Assembly Factor | Paragangliomas; Pheochromocytomas. |
613019 601650 |