Table 1.
Clinical and Biochemical Characteristics of Individuals with PET100 Mutation
| Subject ID | Sex | Age of Onset | Age of Death (Current Age) | Clinical Presentation | % CIV Activitya | Relationship between Parents | Religious Background of Parents |
|---|---|---|---|---|---|---|---|
| A1 | M | 4 months | 0.7 years | LS | 17 (F), 19 (M), 22 (L) | first cousins | Christian |
| B1 | M | 1.5 months | 0.7 years | DD, FTT, seizures | 24 (F) | second cousins | Sunni Muslim |
| C1 | F | 3 months | (15.5 years) | LS | 10 (F), 21 (M) | unrelated, from nearby villages | Maronite Catholic |
| D1 | M | 6 months | (24 years) | LS, dystonia, seizures | 27 (F) | first cousins | Maronite Catholic |
| D2 | M | 4 months | 0.6 years | LS, seizures | 22 (F) | ||
| E1 | M | 4 months | 16 years | DD, FTT, seizures | 29 (F) | unrelated | Maronite Catholic |
| E2 | M | 9 months | (27 years) | LS, seizures | 25 (F) | ||
| F1 | M | 6 months | (9.7 years) | LS, seizures | 34 (F) | first cousins | Muslim |
| G1 | F | 4 months | 1 year | DD, seizures | 12 (F), 39 (L) | first cousins once removed | Christian Orthodox |
| H1 | M | 4 months | 3.5 years | LS, seizures | 51 (F), 48 (M), 21 (L) | second cousins | Maronite Catholic |
Abbreviations are as follows: LS, Leigh syndrome; DD, developmental delay; FTT, failure to thrive.
a
CIV activity is expressed as percent of control mean value for CIV activity relative to citrate synthase activity in fibroblasts (F), skeletal muscle (M), or liver (L).