(Likely) Pathogenic mtDNA mutations identified in our diagnostic laboratory (Maastricht), presumably de novo in the index patients
| Reference | Family no. | Gene | Mutation | Mutation load(s) in tested tissue(s) of index patient | Mutation load(s) in tested tissues of (maternal) relative(s) | Index patient's age at investigation | |
|---|---|---|---|---|---|---|---|
| De novo cases | |||||||
| 1. | – | 16390 | MTTL1 | m.3243A>G | 12% (Bl) | Mother: n (Bl, U) Daughter: 4% (U) | 44 |
| 2. | – | 19462 | MTTL1 | m.3243A>G | 8% (M, Bl) | Mother: n (Bl, U) | 3 |
| 3. | This article (case 5) | 22023 | MTTL1 | m.3243A>G | 13% (Bl), 12% (M), 17% (F), 16% (U), 14% (BM) | Mother: n (Bl, M, BM) 11 oocytes/embryos in PGD cycle: | 2 |
| 4. | This article (case 2) | 15503 | MTTW | m.5556G>A | >90% (M) (not tested in our laboratory) | n Mother: n (Bl, H, U, M) Mother's subsequent pregnancy: n (amniocentesis) | 0 |
| 5. | This article (case 3) | 17063 | MTATP6 | m.8969G>A | 95% (Bl, F, M) | Mother: n (Bl, U) Mother's subsequent pregnancy: n (amniocentesis) | 0 |
| 6. | This article (case 1) | 7387 | MTATP6 | m.8993T>G | 90% (M) | Mother: n (Bl, H, M) Mother's subsequent pregnancy: n (CVS) | 1 |
| 7. | This article (case 4) | 19006 | MTATP6 | m.8993T>G | 97% (Bl, M), 96% (F) | Mother: n (Bl, U, H) Mother's subsequent pregnancy: n (abortus material) Mother's second subsequent pregnancy: n (CVS) | 0 |
| 8. | – | 21838 | MTATP6 | m.8993T>G | 92% (M), 90% (Bl) | Mother: n (Bl, U) | 1 |
| 9. | – | 14652 | MTATP6 | m.9155A>G | 88% (M) | Mother: n (Bl, M) | 1 |
| 10. | – | 9868 | MTND3 | m.10191T>C | 100% (Bl, M) | Mother: n (Bl, M, H, U) | 0 |
| 11. | – | 2869 | MTTS2 | m.12207G>A | >60% (M), n (Bl) (with semiquantitative sequence analysis) | Mother: n (Bl) (with semiquantitative sequence analysis) | 41 |
| 12. | Blok et al49 | 6604 | MTND5 | m.13511A>T | 65% (Bl), 53–65% (F), 72% (M) | Mother: n (M, Bl, H) | 3 |
| 13. | Blok et al49 | 2339 | MTND5 | m.13513G>A | 4–6% (Bl), 13–15% (M), 1–5% (F) | Mother: n (Bl, F, H) Two sisters: n (Bl) Maternal grandmother: n (Bl, F) | 19 |
| 14. | Blok et al49 | 4707 | MTND5 | m.13513G>A | 11–16% (Bl), 17% (H), 16% (M), n (F) | Mother: n (Bl, H) Maternal grandmother: n (Bl, H) | 1 |
| 15. | – | 18686 | MTND5 | m.13513G>A | 1% (Bl), 10% (M) | Mother: n (Bl, M) | 42 |
| 16. | – | 22006 | MTCYB | m.15153G>A | Heteroplasmic (Bl, M) (with semiquantitative sequence analysis) | Mother: n (Bl) (with semiquantitative sequence analysis) | 43 |
| 17. | – | 27171 | MTCYB | m.15158A>G | Heteroplasmic (Bl, M) (with semiquantitative sequence analysis) | Mother: n (Bl) (with semiquantitative sequence analysis) | 0 |
Mutations are listed according to nucleotide position.
Bl, blood; BM, buccal mucosa; CVS, chorionic villus sampling; F, fibroblasts; H, hair; M, muscle; n, normal (mutation not detected); PGD, preimplantation genetic diagnosis; U, urine.