Table 3.
The contribution of prioritized candidate genes to our Chinese probands
| Class | Known candidate genes (n = 195) | Novel candidate genes (n = 17) | |
|---|---|---|---|
| FDRTADA_combined < 0.05 (n = 193) | 180 | 13 genes: MSL2, SPAG9, POLR3A, CYP27C1, DCX, GALNT18, ITSN1, LRRC4, PSD3, SMAD6, SPG7, ST3GAL6, UBR3 | |
| 0.05 ≤ FDRTADA_combined < 0.1 (n = 15) | 12 | 3 genes: DNAH17, RRAGC, YTHDC1 | |
| Genes with X-linked hemizygous (n = 6) | 5 | 1 gene: PLXNA3 | |
| Chinese probands with DNVs (n = 935) | 94 (10.05%) | 5 (0.53%) | Subtotal: 99 (10.59%) |
| Chinese probands with X-linked hemizygous variants (n = 745) | 6 (0.81%) | 1 (0.13%) | Subtotal: 7 (0.94%) |
| Chinese probands with inherited or state unknown variants (n = 1102) | 345 (31.31%) | 49 (4.45%) | Subtotal: 394 (35.75%) |
PTCHD1 and ARHGEF9 were in two groups, including FDRTADA_combined < 0.05 and genes with X-linked hemizygous