Table 1.
Mutation spectrum of recessive NOD2 variants in an EO-IBD cohort.
| NOD2 variant | # EO-IBD probands | Mean age (range) | % CD Dx | Tissue involvement | ||
|---|---|---|---|---|---|---|
| Colon (%) | Ileum (%) | Perianal (%) | ||||
| Compound heterozygous | ||||||
| Rare/rare | 4 T; 1S | 12.5 (9.0–14.6) | 88.9 | 80.0 | 60.0 | 40.0 |
| Common/rare | 1Q; 9 T; 6D; 14S | 12.6 (5.5–16.5) | 93.1 | 57.1 | 82.1 | 25.0 |
| Common/common | 17 T; 5D; 10S | 11.8 (2.1–18.5) | 90.6 | 56.3 | 90.6 | 25.0 |
| Homozygous | ||||||
| Rare | 1D; 2S | 9.6 (4.2–15.1) | 66.7 | 33.3 | 33.3 | 33.3 |
| p.R702W | 1Q; 2 T; 3D; 1S | 11.7 (5.8–13.8) | 100 | 85.7 | 57.1 | 42.9 |
| p.G908R | 2 T; 1D; 2S | 10.6 (7.7–13.7 | 80.0 | 40.0 | 40.0 | 0.0 |
| p.L1007fs | 4 T; 2D; 4S | 12.1 (5.9–13.4) | 100 | 60.0 | 90.0 | 20.0 |
Common NOD2 variants refer to the three main low-frequency Crohn’s Disease risk variants p.R702W, p.G908R, and p.L1007fs; Rare NOD2 variants refer to other low-frequency variants (MAF ≤ 5%).
Q, quartet; T, trio; D, duo; S, singleton; Dx, diagnosis.