Table 5.
Genetic testing of very-early-onset inflammatory bowel disease patients
| Patient | Sex | Age of disease onset | WES/TGPS | Genetic mutation | Location of mutation | Mutation of parents | Homo/Heterozygote | SIFT score/ prediction | Polyphen2 score/ prediction | MutationTaster score/ prediction |
| 1 | M | Neonate | Both | IL10RB | Chr21:34660499 c.737G>A p.W246X | Heterozygotic mutation of parents c.737G>A | Homozygote | - | - | 6/D |
| 2 | F | 4 mo | TGPS | IL10RA | Chr11:117860269 c.301C>T p.R101W Chr11:117864125 c.537G>A p.T179T | Heterozygotic mutation of father c.301C>T | Compound heterozygote | 0/D | 1/D | 101/D |
| mother c.537G>A | 1/T | - | - | |||||||
| 3 | M | 1 mo+ | TGPS | IL10RA | Chr11:117860269 c.301C>T p.R101W | Heterozygotic mutation of father c.301C>T | Compound heterozygote | 0/D | 1/D | 101/D |
| Chr11:117864058 c.470A>G p.Y157C (rs1027503096) | mother c.470A>G | 0.001/D | 1/D | 194/N | ||||||
| 4 | M | 1 mo+ | TGPS | IL10RA | Chr11:117860269 c.301C>T p.R101W | Heterozygotic mutation of parents c.301C>T | Homozygote | 0/D | 1/D | 101/D |
| 5 | M | Neonate | TGPS | IL10RA | Chr11:117860269 c.301C>T p.R101W | Heterozygotic mutation of father c.301C>T | Compound heterozygote | 0/D | 1/D | 101/D |
| c.350G>A p.R117H (rs199989396) | mother c.350G>A | 0.011/D | 1/D | 29/D | ||||||
| 6 | M | Neonate | TGPS | CYBB | ChrX:37658209 c.676C>T p.R226X (rs137854592) | Heterozygotic mutation of mother c.676C>T | Hemizygotic mutation | - | - | 6/D |
| 7 | M | Neonate | TGPS | CYBB | ChrX:37642741 c.142-2A>G splicing | Heterozygotic mutation of mother c.142-2A>G | Hemizygotic mutation | - | - | - |
| 8 | M | 9 mo | Both | TNFRSF13B | Chr17:16843819 c.452C>T p.P151L (rs200037919) | Heterozygotic mutation of father c.452C>T | Compound heterozygote | 0.568/T | 0.005/B | 98/N |
| Chr17:16852132 c.365G>A p.R122Q (rs755343222) | mother c.365G>A | 0.485/T | 0.136/B | 43/N | ||||||
| 9 | M | 5 yr 11 mo | TGPS | XIAP | ChrX:123022501 c.910G>T p.G304X | No mutation in parents | Hemizygotic mutation | - | - | 6/D |
| 10 | F | 5 yr 9 mo | TGPS | IL10RB | Chr21:34652146 c.421G>A p.E141K (rs387907326) | Heterozygotic mutation in father c.421G>A | Heterozygote | 0.026/D | 0.946/D | 56/D |
| 11 | F | 4 mo | WES | - | ||||||
| 12 | M | 8 mo | WES | - | ||||||
| 13 | F | 3 yr 3 mo | TGPS | - | ||||||
| 14 | F | 4 yr | TGPS | - | ||||||
| 15 | M | 1 yr 10 mo | WES | - | ||||||
| 16 | F | 4 yr 8 mo | WES | - |
TGPS: Targeted gene panel sequencing; WES: Whole exome sequencing.