Table 2.
Prevalence Estimate for Nuclear Gene Mutations in North East England
| Nuclear Gene Defects | Affected, No. | Prevalence in Affected Adults (95% CI) |
|---|---|---|
| SPG7, ar | 17 | 0.8 (0.5–1.3) × 10−5 |
| PEO1, ad | 15 | 0.7 (0.4–1.2) × 10−5 |
| OPA1, ad | 8 | 0.4 (0.2–0.7) × 10−5 |
| POLG, ar | 6 | 0.3 (0.1–0.6) × 10−5 |
| RRM2B, ad | 5 | 0.2 (0.1–0.5) × 10−5 |
| SDHA, ad | 2 | 0.1 (0.0–0.3) × 10−5 |
| TRIT1, ar | 2 | 0.1 (0.0–0.3) × 10−5 |
| DNM2, ad | 1 | 0.05 (0.0–0.3) × 10−5 |
| ETFDH, ar | 1 | 0.05 (0.0–0.3) × 10−5 |
| Genetically undetermined | 5 | 0.2 (0.1–0.5) × 10−5 |
| Total | 62 | 2.9 (2.2–3.7) × 10−5 |
ad = autosomal dominant; ar = autosomal recessive; CI = confidence interval; DNM2 = dynamin 2; ETFDH = electron‐transferring‐flavoprotein dehydrogenase; OPA1 = optic atrophy 1; PEO1 = progressive external ophthalmoplegia 1 protein; POLG = polymerase gamma; RRM2B = ribonucleotide reductase M2 B (TP53 inducible); SDHA = succinate dehydrogenase complex, subunit A; SPG7 = spastic paraplegia 7; TRIT1 = tRNA isopentenyltransferase 1.