Table 1.
Number of patients with harboring NOD2 variants fulfilling American College of Medical Genetics criteria for Likely Pathogenic or Pathogenic, and variants predicted to be deleterious but with no functional evidence. For functional evidence refer to Supplementary Data 1. Prevalence of stricturing disease within each group is reported.
| All Patients (N = 645) | Patients Diagnosed Younger than 18 Years Only (n = 373) | Patients Diagnosed 18 Years or Older Only (n = 272) | ||||
|---|---|---|---|---|---|---|
| NOD2-Related Diseasea (number with stricturing phenotype, %) | In silico NOD2-Related Diseaseb (number with stricturing phenotype, %) | NOD2-Related Diseasea (number with stricturing phenotype, %) | In silico NOD2-Related Diseaseb (number with stricturing phenotype, %) | NOD2-Related Diseasea (number with stricturing phenotype, %) | In silico NOD2-Related Diseaseb (number with stricturing phenotype, %) | |
| Homozygote | 19 (9 patients, 47.4%) | 0 (0 patients) | 13 (5 patients, 38.5%) | 0 (0 patients) | 6 (4 patients, 66.7%) | 0 (0 patients) |
| Presumed compound heterozygote | 29 (15 patients, 51.7%) | 15c (5 patients, 33.3%) | 17 (9 patients, 52.9%) | 10c (3 patients, 30%) | 12 (6 patients, 50%) | 5c (2 patients, 40%) |
| 9 d (5 patients, 55.6%) | 5 d (3 patients, 60%) | 4 d (2 patients, 50%) | ||||
| Total patients | 48 (24 patients, 50%) | 24 (10 patients, 41.7%) | 30 (14 patients, 46.7%) | 15 (6 patients, 40%) | 18 (10 patients, 55.6%) | 9 (4 patients, 44.4%) |
a Two or more variants that functionally impact NOD2 function, including reduced/absent protein function, impact downstream signaling, nonsense mediated decay or deletions, in line with American College of Medical Genetics guidelines.
b Either, one variant that functionally impacts NOD2 function including reduced/absent protein function, impact downstream signaling, nonsense-mediated decay or deletions, in line with American College of Medical Genetics guidelines AND one variant had a minor allele frequency (MAF) (gnomAD_AF) <0.05 and a CADD-PHRED 1.6 score of >15, OR 2 variants had a MAF (gnomAD_AF) <0.05 and a CADD-PHRED 1.6 score of >15.
c Patients with one variant that functionally impacts on NOD2 function, including reduced/absent protein function, impact downstream signaling, nonsense mediated decay or deletions, in line with American College of Medical Genetics guidelines AND one variant with a MAF (gnomAD_AF) <0.05 and a CADD-PHRED 1.6 score of >15.
d Patients with 2 variants of a MAF (gnomAD_AF) <0.05 and a CADD-PHRED 1.6 score of >15.