Subjects (gender) | TATAA element | Structural mutation | Effect on protein sequence | Serum bilirubin |
Family A | ||||
Infant A1 (F) | (TA)6TAA/(TA)7TAA | 1223delA/normal | Truncated/normal | 456 μmol/l1-150 |
Infant A2 (F) | (TA)6TAA/(TA)7TAA | 1223delA/normal | Truncated/normal | 410 μmol/l1-150 |
Mother | TA)6TAA/(TA)7TAA | Normal/normal | Normal/normal | 10 μmol/l |
Father | (TA)6TAA/(TA)6TAA | 1223delA/normal | Truncated/normal | 15 μmol/l |
Family B | ||||
Proband (M) | (TA)6TAA/(TA)7TAA | 1490T>A/normal | L497X/normal | 205 μmol/l |
Sib (F) | (TA)6TAA/(TA)7TAA | 1490T>A/normal | L497X/normal | 85 μmol/l |
Mother | (TA)6TAA/(TA)7TAA | Normal/normal | Normal/normal | 7 μmol/l |
Father | (TA)6TAA/(TA)6TAA | 1490T>A/normal | L497X/normal | 9 μmol/l |
Family C | ||||
Child C (F) | (TA)6TAA/(TA)6TAA | 1452G>A/1452G>A | W484X/W484X | 359 μmol/l1-150 |
Mother | (TA)6TAA/(TA)7TAA | 1452G>A/normal | W484X/normal | 51 μmol/l |
Father | (TA)6TAA/(TA)6TAA | 1452G>A/normal | W484X/normal | 10 μmol/l |
Family D | ||||
Case D1 (F) | (TA)7TAA/(TA)7TAA | 524T>A/524T>A | L175Q/L175Q | 282 μmol/l |
Case D2 (F) | (TA)7TAA/(TA)7TAA | 524T>A/524T>A | L175Q/L175Q | 203 μmol/l |
Father | (TA)7TAA/(TA)7TAA | 524T>A/normal | L175Q/normal | 60 μmol/l |
↵1-150 Represents peak serum bilirubin levels.