Table 2.
Genotype in 13 Chinese GS pedigrees
| Pedigree | Patient | Location | Mutation |
|---|---|---|---|
| A | II 1(M) | Exon1, c.2816G > A | W939X (Hetero) |
| B | II 1(M) | Exon7, c.911C > T/exon 17, c.2099T > C | T304M/L700P(CH) |
| C | II 1(M) | Exon12, c.1456G > A/intron 22, c.2633 + 1 G > A | D486N/SP(CH) |
| II 2(M) | Exon12, c.1456G > A/intron 22, c.2633 + 1 G > A | D48 N/SP(CH) | |
| D | II 1(F) | Exon3, c.486_490delinsA/exon12, c.1456G > A | T163fs/D486N(CH) |
| E | II 1(M) | Exon6,c.805_806insTTGGCGTGGTCTCGGTCA/exon10,c.1288T > G | T269fs/C430G(CH) |
| F | II 1(M) | Exon3, c.473G > A/exon5, c.634G > A | R158Q/G212S(CH) |
| G | II 1(M) | Exon1, c.234delG/exon1,c.179C > T | E7 fs/T60M(CH) |
| II 3(F) | Exon1, c.234delG/exon1,c.179C > T | E78fs/T60M(CH) | |
| H | II 3(M) | Exon3, c.486_490delinsA/exon15, c.1925G > A | T163fs/R642H(CH) |
| II 2(F) | Exon3, c.486_490delinsA/exon15, c.1925G > A | T163fs/R642H(CH) | |
| I | II 1(F) | Exon1, c.179C > T/intron3, c.506-1G > A | T60M/SP(CH) |
| II 2(F) | Exon1, c.179C > T/intron3, c.506-1G > A | T60M/SP(CH) | |
| J | II 1(F) | Exon3, c.486_490delinsA | T163fs (Hetero) |
| K | II 1(M) | Intron3, c.506-1G > A/exon17, c.2129C > T | SP/S710X(CH) |
| L | II 1(F) | Intron3, c.506-1G > A/exon8, c.1077C > G | SP/N359K(CH) |
| M | II 1(F) | Exon3, c.486_490delinsA/exon8, c.965-1 _969delinsACCGAAA, c.976_977delGT | T163fs/fs/V326fs(CH, triple) |
M male, F female, Homo homozygosity, Hetero heterozygosity, CH compound heterozygosity, SP splicing mutation