Genetic characteristics of the patients with age of diagnosis, follow up and clinical summary_
| gender | genotype | oocyte mutation (origin of oocyte) | mutation of the father | age at diagnosis | current age at follow up | clinical summary |
|---|---|---|---|---|---|---|
| boy | c.1521_1523delCTT/c.1739_1740insT | c.1521_1523delCTT (donor) | c.1739_1740insT | 9 years | 14 years | FTT, NP, SA positive |
| boy | c.1521_1523delCTT/c.3909C>G | c.1521_1523delCTT (donor) | c.3909C>G | birth | 3 months | MI |
| girl* | c.1521_1523delCTT/c.1521_1523delCTT | c.1521_1523delCTT (donor) | c.1521_1523 delCTT | 3 months | 13 months | RI, PA positive |
| girl* | c.828C>A /c.1521_1523delCTT | c.828C>A (donor) | c.1521_1523delCTT | 11 months | 6 yrs 1 month | RI, PA positive |
| boy | c.3909C>G/c.828C>A | c.3909C>G (mother) | c.828C>A | birth | 12 months | MI |