Table 3 The genotypes of the patients and their family members as assessed by bidirectional sequencing
Gene | Family 1 | Family 2 | ||||
|---|---|---|---|---|---|---|
P1 | P1’s mother | P1’s offspring (girl) | P2 | P2’s mother | P2’s offspring (boy) | |
GNRH1 exon 1 | g.6757 G > C rs6185 Heterozygous | wt | wt | wt | wt | wt |
g.6891 T > G rs2709608 Homozygous intronic variant | g.6891 T > G rs2709608 Homozygous intronic variant | na | g.6891 T > G rs2709608 Homozygous intronic variant | g.6891 T > G rs2709608 Homozygous intronic variant | na | |
GNRHR exon 1 | g. 7167 G > A rs104893842 Heterozygous | g. 7167 G > A rs104893842 Heterozygous | wt | g. 7167 G > A rs104893842 Homozygous | g. 7167 G > A rs104893842 Heterozygous | g. 7167 G > A rs104893842 Heterozygous |
GNRHR exon 3 | g. 20426 C > T Heterozygous | wt | wt | wt | wt | wt |