Table 2 Four patients with de novo mutations
Fmilly Number | Gender | Phenotype | proband genotype | Maternal genotype | Paternal genotype | De novo mutaions |
|---|---|---|---|---|---|---|
F10 | Female | SV | c.1069 C > T; c.293–13 A/C > G | N | c.1069 C > T | c.293–13 A/C > G |
F84 | Female | SW | c.293–13 A/C > G; c.874G > A | c.293–13 A/C > G | c.293–13 A/C > G | c.874G > A |
F102 | Female | NC | c.293–13 A/C > G; c.844G > T | N | c.844G > T | c.293–13 A/C > G |
F113 | Male | SW | Deletion; c.293–13 A/C > G | N | N | Deletion and c.293–13 A/C > G |