Table 1 Identified mutations with bonferroni corrected p-value and occipital frontal circumference (OFC) of patients with de novo mutations in mTOR-related genes
Patient key | Gene | c.DNA | Protein change | Known ID gene | OFC | Bonferroni-corrected p-value |
|---|---|---|---|---|---|---|
1 | RHEB | c.202 T>C | p.(S68P) | No | >+2.5 SD | 4.514e−03* |
2 | RHEB | c.110 C > T | p.(P37L) | No | >+2.5 SD | |
3 | RHEB | c.110 C > T | p.(P37L) | No | >+2.5 SD | |
4 | RAC1 | c.53 G > A | p.(C18Y) | No | <−2.5 SD | 7.657e−03 |
5 | RAC1 | c.116 A > G | p.(N39S) | No | <−2.5 SD | |
6 | PPP2R5E | c.605 T > G | p.(V202G) | No | No data | 1 |
7 | PPP2CA | c.882dup | p.(R295*) | No | No data | 1.696e−02 |
8 | PPP2CA | c.572 A > G | p.(H191R) | No | >+2.5 SD | |
9 | ERK1 | c.569 T > C | p.(I190T) | No | <−2.5 SD | 1 |
10 | PIK3R1 | c.1359 C > G | p.(N453K) | Yes | Normal | 7.662e−02 |
11 | PIK3R1 | c.1692 C > G | p.(N564K) | Yes | >+2.5 SD | |
12 | PIK3R2 | c.1117 G > A | p.(G373R) | Yes | >+2.5 SD | 1 |
13 | RAF1 | c.1082 G > C | p.(G361A) | Yes | Normal | 1 |
14 | PPP2R5D | c.1258 G > A | p.(E420K) | Yes | No data | 7.832e−04 |
15 | PPP2R5D | c.598 G > A | p.(E200K) | Yes | >+2.5 SD | |
16 | PPP2R5D | c.592 G > A | p.(E198K) | Yes | >+2.5 SD | |
17 | MTOR | c.4555 G > A | p.(A1519T) | Yes | >+2.5 SD | 1 |
