Table 3 Molecular Diagnosis Results in 13 Families. Abbreviations: N, normal; GW, gestational weeks.
Family | Gene | Mutation Type | GW | ||
|---|---|---|---|---|---|
Father | Mother | Proband | |||
F01 | PAH | c.728 G > A/N | c.728 G > A/N | c.728 G > A/c.728 G > A | 17 |
F02 | PAH | c.764 T > C/N | c.1197 A > T/N | c.764 T > C/c.1197 A > T | 18 |
F03 | PAH | c.728 G > A/N | c.1045 T > G/N | c.728 G > A/c.1045 T > G | 18 |
F04 | PAH | c.770 G > T/N | c.992 T > C/N | c.770 G > T/c.992 T > C | 17 |
F06 | PAH | c.611 A > G/N | c.728 G > A/N | c.611 A > G/c.728 G > A | 20 |
F07 | PAH | c.1238 G > C/N | c.977 G > A/N | c.1238 G > C/c.977 G > A | 17 |
F08 | PAH | c.838 G > A/N | c.728 G > A/N | c.838 G > A/c.728 G > A | 12,18 |
F09 | PAH | c.208_210delTCT/N | c.473 G > A/N | c.208_210delTCT/c.473 G > A | 18 |
F10 | PAH | c.1197 A > T/N | c.1045 T > G/N | c.1197 A > T/c.1045 T > G | 17 |
F11 | PAH | c.727 C > T/N | c.1223 G > A/N | c.727 C > T/c.1223 G > A | 12,17 |
F12 | PAH | c.764 T > C/N | c.611 A > G/N | c.764 T > C/c.611 A > G | 18 |
F13 | PAH | c.721 C > T/N | c.728 G > A/N | c.721 C > T/c.728 G > A | 12,16 |
F05 | PTS | c.116_119delTGTT/N TGTT/N | IVS1-129A > G/N | c.116_119delTGTT/IVS1-129A > G | 18 |
