Table 1. Clinical features and SLCO2A1 mutations in Japanese patients with chronic nonspecific multiple ulcers of the small intestine.
| Patients | Sex | Consanguinity (degrees) | Family History | SLCO2A1 Mutation | Age (yr) | Presenting Symptoms | Disease Site | Laboratory Data at Diagnosis | Surgery | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Onset | Diagnosis | Hemoglobin (g/dl) | Serum Protein (g/dl) | CRP (mg/dl) | |||||||||
| 1 (A-V–2) | F | Yes (5) | No | SS/SS | c.1461+1G>C/ c.1461+1G>C | 17 | 43 | Anemia | I | 9.6 | 4.6 | 0.5 | + |
| 2 (B-IV–3) | F | Yes (3) | No | SS/SS | c.940+1G>A/ c.940+1G>A | 37 | 38 | Anemia | S, I | 9.5 | 6.7 | 0.5 | + |
| 3 (C-IV–3) | F | Yes (3) | No | SS/SS | c.940+1G>A/ c.940+1G>A | 11 | 39 | Anemia, abdominal pain | I | NA | NA | NA | + |
| 4 (D-II–4) | F | No | Yes | NS/NS | Gly222Arg/ Arg603X | 53 | 55 | Anemia | S, I | 9.7 | 5.2 | 0.1 | - |
| 5 (D-II–5) | F | No | Yes | NS/NS | Gly222Arg/ Arg603X | 12 | 22 | Anemia, abdominal pain | S, D, I | 9.7 | 5.8 | 0.3 | + |
| 6 | F | No | Yes | SS/SS | c.940+1G>A/ c.940+1G>A | 12 | 51 | Anemia | D, I | 4.8 | 5.3 | 0.0 | + |
| 7 | F | No | Yes | SS/SS | c.940+1G>A/ c.940+1G>A | 16 | 41 | Anemia | D, I | 10.7 | 5.8 | 0.9 | + |
| 8 | F | Yes (3) | No | SS/SS | c.940+1G>A/ c.940+1G>A | 13 | 29 | Anemia | D, I | 8.4 | 5.0 | 0.2 | + |
| 9 | F | Yes (3) | No | NS/NS | Val458Phe/ Val458Phe | 40 | 66 | Anemia, hypoproteinemia | I | 9.5 | 4.4 | 0.6 | + |
| 10 | F | No | No | NS/NS | Glu141X/ Arg603X | 50 | 59 | Anemia, abdominal pain | I | 8.5 | 6.3 | 0.1 | - |
| 11 | M | No | No | SS/SS | c.940+1G>A/ c.940+1G>A | 20 | 41 | Anemia, hypoproteinemia | D, J, I | 11.0 | 4.8 | 1.6 | - |
| 12 | M | No | No | NS/NS | Gly222Arg/ Gly222Arg | 15 | 63 | Anemia, hypoproteinemia | J, I | 8.1 | 5.7 | 0.4 | + |
| 13 | F | Yes (3) | No | SS/SS | c.940+1G>A/ c.940+1G>A | 51 | 51 | Anemia, abdominal pain | S, I | 11.2 | 6.6 | 0.1 | + |
| 14 | F | Yes (3) | Yes | SS/SS | c.940+1G>A/ c.940+1G>A | 7 | 7 | Anemia, abdominal pain | S, D, J, I | 11.1 | 5.8 | 0.1 | + |
| 15 | F | No | No | SS/NS | c.940+1G>A/ Arg603X | 18 | 23 | Anemia, abdominal pain | D, I | 7.8 | 3.8 | 0.0 | + |
| 16 | M | Yes (NA) | No | SS/SS | c.940+1G>A/ c.940+1G>A | 12 | 31 | Anemia, edema | D, I | 7.4 | 8.2 | 0.1 | + |
| 17 | M | No | No | SS/NS | c.940+1G>A/ Gly183Arg | 1 | - | Anemia, edema | J, I | 2.3 | 5.1 | 0.4 | + |
| 18 | F | No | No | SS/NS | c.940+1G>A/ Glu141X | 52 | - | Anemia, edema | J, I | 9.5 | 5.2 | 0.1 | - |
Whole-exome sequencing was performed on patients 1–5. Patients 6–16 were screened by Sanger sequencing to validate the results of whole-exome sequencing. Patients 17 and 18 were initially diagnosed as Crohn’s disease. NS, non-synonymous mutation; SS, splice-site mutation; S, stomach; D, duodenum; J, jejunum; I, ileum; NA, not available.