Comprehensive mutation screening for 10 genes in Chinese patients suffering very early onset inflammatory bowel disease

Figure 1 Causative mutations in IL-10RA (A-D) or IL-10RB (E). A: Patient 1, c.C301T, p.R101W, homozygote; B: Patient 2, c.T299G, p.V100G and c. C301T, p.R101W, compound heterozygote; C: Patient 3, c.A191G, p.Y64C and c. C301T, p.R101W, compound heterozygote; D: Patient 4, c.G35A, p.R117H (rs199989396), heterozygote; E: Patient 5, c.G421A, p.E141K (rs387907326), heterozygote.

Figure 2 Colonoscopic presentation of patients with causative mutations showed pancolitis, cobblestone-like changes in mucosa, and deep and large ulcers. A to E presents patient 1 to patient 5, respectively.