Table 3.
Mutations Identified in the Subjects
| Subject | Mutation (DNA) | Mutation (Protein) | Parents Tested | Reference |
|---|---|---|---|---|
| 1 | c.3892G>T | p.Gly1298∗ | not available | subject 1 in Abdul-Rahman et al.1 See also Schlaubitz et al.11 |
| 2 | c.4360_4368delinsAAAAACCAAAA | p.Glu1454LysfsX8 | de novo | subject 2 in in Abdul-Rahman et al.1 See also Schlaubitz et al.11 |
| 3 | c.3802G>T | p.Gly1268∗ | de novo | Lammer and Abrams7 Schlaubitz et al.11 |
| 4 | c.3769_3772delTCTA | p.Lys1258GlyfsX13 | de novo | Lifchez et al.8 |
| 5 | c.3788_3789delAA | p.Lys1263ArgfsX7 | de novo | this report |
| 6 | c.3769_3772delTCTA | p.Lys1258GlyfsX13 | de novo | this report |