Table 3.
Segregation analysis: candidate genes stratified by group
| Groups | Description | Included genes | # Families |
Log likelihood (95% CI) |
|---|---|---|---|---|
| 1 + 2 | Genes involved in epigenetic regulation selected from the literature and using GO terms | ARID1A, BAZ1B, CHD7, CHD8, CHD9, DNMT3A, NCOR1, RIF1, TET2, CASC5, CHD5, EP400, HUWE1, KDM5B, NIPBL, NOS1, PAX5 | 85 | 1.17 (0.86, 1.56) |
| 3 | Candidate genes from whole-exome sequencing | ABCA13, ANK4D30A, C15orf42, CDHR2, DGKH, DLEC1, IL17B, ITPR2, NEB, NET1, NOTCH1, PIK3C2G, PLIN4, PUM2, RBM44, RNF180, SLC22A5, SUPT3H | 124 | 1.17 (0.94, 1.46) |
| 4 + 5 | Driver genes [30, 31] | APC, CASP8, MAP3K1, ATR, CELSR1, CEP192, DNAH5, HECW1, LAMA2, LPHN2, LRP2, MDN1, NELL1, PDE4DIP, PKD1L1, RALGAPA1, SMG5, SPHKAP, SYNE1, SYNE2, TDO2, UBAP2L, UBR5, USH2A, XRN1 | 157 | 1.10 (0.89, 1.35) |
| 1 + 2 + 4 + 5 | 242 | 1.11 (0.94, 1.32) |