Table 1.
Genotypes of 13 patients diagnosed with very early-onset inflammatory bowel disease
| Patient | Gene | Variation | Homo/Heterozygote | Function defect |
| 1 | IL-10RA | p.R101W | Homozygote | Yes |
| 2 | IL-10RA | p.R101W | Compound heterozygote | Yes |
| p.V100G (novel mutation) | Pathogenic supporting by Polyphen 2 and SIFT | |||
| 3 | IL-10RA | p.R101W | Compound heterozygote | Yes |
| p.Y64C (novel mutation) | Pathogenic supporting by Polyphen 2 and SIFT | |||
| 4 | IL-10RA | p.R117H (rs199989396) | Heterozygote | Yes |
| NOD2 | p.R703C (rs5743277) | Heterozygote | Susceptibility to CD recorded in HGMD | |
| FUT2 | p.I140F (rs1047781) | Heterozygote | Susceptibility to CD in Chinese population reported by Hu et al[31] | |
| 5 | IL-10RB | p.K47E (rs2834167) | Homozygote | SNP in a VEO-UC child reported by Galatola et al[29] |
| p.E141K (rs387907326) | Heterozygote | Pathogenic supporting by Polyphen 2 and SIFT | ||
| IL-10RA | p.P115P (rs22280554) | Homozygote | Susceptibility to VEO-IBD reported by Moran et al[30] | |
| p.I224V (rs22280555) | Homozygote | |||
| FUT2 | p.I140F (rs1047781) | Heterozygote | Susceptibility to CD in Chinese population reported by Hu et al[31] | |
| 6 | IL-10RA | p.P115P (rs22280554) | Homozygote | Susceptibility to VEO-IBD reported by Moran et al[30] |
| p.I224V (rs22280555) | Homozygote | |||
| FUT2 | p.I140F (rs1047781) | Homozygote | Susceptibility to CD in Chinese population reported by Hu et al[31] | |
| 7 | IL-10RA | p.P115P (rs22280554) | Homozygote | Susceptibility to VEO-IBD reported by Moran et al[30] |
| p.I224V (rs22280555) | Homozygote | |||
| FUT2 | p.I140F (rs1047781) | Heterozygote | Susceptibility to CD in Chinese population reported by Hu et al[31] | |
| 8 | IL-10RB | p.K47E (rs2834167) | Homozygote | SNP in a VEO-UC child reported by Galatola et al[29] |
| FUT2 | p.I140F (rs1047781) | Heterozygote | Susceptibility to CD in Chinese population reported by Hu et al[31] | |
| 9 | IL-10RB | p.K47E (rs2834167) | Heterozygote | SNP in a VEO-UC child reported by Galatola et al[29] |
| FUT2 | p.I140F (rs1047781) | Heterozygote | Susceptibility to CD in Chinese population reported by Hu et al[31] |
Patients 10, 11, 12 and 13 were wild types in all these genes. CD: Crohn's disease; UC: Ulcerative colitis; VEO-IBD: Very early-onset inflammatory bowel disease; VEO-UC: Very early-onset ulcerative colitis; SNP: Single nucleotide polymorphism; HGMD: The Human Gene Mutation Database (http://www.hgmd.cf.ac.uk/ac/index.php).