|
| Family | Family number | ARSA mutation | ARSA mutation |
|
| Pt5 | Proband | c.917C>T (P.Thr306Met) (heterozygous) | c.827C>T (P.Thr276Met) (heterozygous) |
| Father | c.917C (wild type) | c.827C>T (P.Thr276Met) (heterozygous) |
| Mother | c.917C>T (P.Thr306Met) (heterozygous) | c.827C (wild type) |
| Fetus | c.917C (wild type) | c.827C (wild type) |
|
| Pt7 | Proband | c.1130_1132delTCT (p.Phe377del) (heterozygous) | c.1238A>G (p.Asp413Gly) (heterozygous) |
| Father | c.1130_1132TCT (wild type) | c.1238A>G (p.Asp413Gly) (heterozygous) |
| Mother | c.1130_1132delTCT (p.Phe377del) (heterozygous) | c.1238A (wild type) |
| Fetus 1 | c.1130_1132delTCT (p.Phe377del) (heterozygous) | c.1238A>G (p.Asp413Gly) (heterozygous) |
| Fetus 2 | c.1130_1132TCT (wild type) | c.1238A>G (p.Asp413Gly) (heterozygous) |
|
| Pt15 | Proband | c.610C>G (p.Arg204Gly) (heterozygous) | c.44G>T (p.Gly15Val) (heterozygous) |
| Father | c.610C (wild type) | c.44G>T (p.Gly15Val) (heterozygous) |
| Mother | c.610C>G (p.Arg204Gly) (heterozygous) | c.44G (wild type) |
| Fetus | c.610C (wild type) | c.44G (wild type) |
|
| Pt18 | Proband | c.302_303insG (p.L102Pfs) (heterozygous) | c.1428_1429insC (p.S477Qfs) (heterozygous) |
| Father | c.302_303insG (p.L102Pfs) (heterozygous) | c.1428_1429CA (wild type) |
| Mother | c.302_303GC (wild type) | c.1428_1429insC (p.S477Qfs) (heterozygous) |
| Fetus | c.302_303insG (p.L102Pfs) (heterozygous) | c.1428_1429insC (p.S477Qfs) (heterozygous) |
|
