Table 2.
Additional genes with recurrent de novo mutations.
| Gene | Krumm proband count | Iossifov proband count | De Rubeis proband count | Mutation Type | Number of valid mutations | Number of sibling mutations | p-value |
|---|---|---|---|---|---|---|---|
| ASH1L | 1 | 1 | 1 | 2 n, 1 fs | 3 | 0 | 5.70×10−6 |
| CCDC88C | 1 | 1 | 0 | 2 m | 2 | 0 | 0.07 |
| CDC42BPB | 1 | 1 | 1 | 1 n, 2 m | 3 | 0 | 8.45×10−4 |
| CGNL1 | 1 | 1 | 0 | 2 m | 2 | 0 | 0.04 |
| CUL7 | 1 | 1 | 0 | 2 m | 2 | 0 | 0.04 |
| DMXL2 | 1 | 1 | 0 | 2 m | 2 | 0 | 0.07 |
| FAM92B | 1 | 1 | 0 | 2 m | 2 | 0 | 7.96×10−3 |
| GIGYF2 | 1 | 1 | 1 | 1 n, 2 m | 3 | 0 | 3.40×10−4 |
| GRIK5 | 1 | 1 | 1 | 3 m | 3 | 0 | 0.01 |
| HECW2 | 1 | 1 | 0 | 2 m | 2 | 0 | 0.05 |
| P4HA2 | 1 | 1 | 1 | 3 m | 3 | 0 | 1.21×10−4 |
| PHRF1 | 1 | 1 | 1 | 3 m | 3 | 0 | 0.20 |
| PYHIN1* | 1 | 1 | 1 | 1 n, 2 m | 3 | 0 | 5.53×10−4 |
| RAB43 | 1 | 1 | 0 | 2 m | 2 | 0 | 1.10×10−3 |
| RBM27 | 1 | 1 | 0 | 2 m | 2 | 0 | 4.63×10−3 |
| SCN4A* | 1 | 1 | 0 | 2 m | 2 | 0 | 0.17 |
| TBC1D31 | 1 | 1 | 0 | 2 m | 2 | 0 | 7.29×10−3 |
| TET2 | 1 | 1 | 0 | 2 m | 2 | 0 | 0.02 |
| XIRP1* | 1 | 1 | 0 | 2 m | 2 | 0 | 0.07 |
| ZNF462 | 1 | 1 | 1 | 1 fs, 2 m | 3 | 0 | 4.03×10−3 |
| SSPO | 2 | 0 | 0 | 1 s, 1 m | 2 | 0 | 0.91 |
New validated de novo events (Krumm) are compared to previously discovered events (Iossifov 9 = SSC and De Rubeis 10 = Autism Sequencing Consortium [non-SSC probands]). The total number of events in probands (n = 2,377) is contrasted to the total number of de novo events in siblings (n = 1,786). All genes except those with an asterisk are brain expressed according to the GTEx Portal. P-value based on O’Roak et al. 2012 6; recurrence in genes with marginal- or non-significant p-values are potentially chance recurrences. (n = nonsense, fs = frameshift, m = missense, s = splice-site)