Table 4.
Frequency of the most common POLG mutations reported in the literature.
| Present study | Nguyen et al. 2006a | Horvath et al. 2006 | Ferrari et al. 2005 | de Vries et al. 2007 | Total | 95% CI | |
|---|---|---|---|---|---|---|---|
| Patients | 33 | 10 | 30 | 7 | 7 | 87 | |
| Alleles | 66 | 20 | 60 | 14 | 14 | 174 | |
| p.A467T | 22 (32%) | 10 (50%) | 19 (32%) | 5 (36%) | 7 (50%) | 63 (36%) | 29-43% |
| p.G848S | 9 (14%) | 2 (10%) | 1 (1.7%) | 1 (7%) | 1 (7%) | 14 (8%) | 4.4-13% |
| p.T251I-p.P587L (cis) | 3 (4.5%) | 0 | 9 (15%) | 1 (7%) | 0 | 13 (7.5%) | 4.0-12% |
| p.W748S | 6 (9%) | 1 (5%) | 2 (3%) | 2 (14%) | 0 | 11 (6.3%) | 3.2-11% |
| p.T914P | 2 (3%) | 1 (5%) | 3 (5%) | 0 | 0 | 6 (3.4%) | 1.3-7.4% |
| Splice, nonsense, frameshift mutations | 6 (9%) | 3 (15%) | 1 (1.7%) | 2 (14%) | 1 (7%) | 13 (7.5%) | 4.0-12% |
| Other missense mutationsb | 19 (29%) | 3 (15%) | 25 (42%) | 3 (21%) | 5 (36%) | 55 (32%) | 25-39% |
a
Cases previously reported by other groups were not included.
b
Missense mutations in cis were counted as one mutant allele.