Table 1. Baseline characteristics in individual participants KCNJ11 cases and INS controls and group characteristics summary.
| Case | Mutation | Inheritance | Sex | Age | Age at diabetes diagnosis (weeks) | Age at genetic diagnosis (years) | Age at transfer to SU (years) | Treatment (total daily dose) | HbA1c DCCT (%) | HbA1c IFCC (mmol/mol) |
|---|---|---|---|---|---|---|---|---|---|---|
| KCNJ11 1 | G53S | Autosomal dominant | M | 32 | 2 | 23 | 23 | Glyburide 30mg, metformin 1g | 9.3 | 78 |
| KCNJ11 2 | R201H | Presumed de novo | F | 22 | 4 | 15 | 15 (attempted) | Insulin (restarted after trial of glyburide) | 8.1 | 65 |
| KCNJ11 3 | R201H | De novo | M | 36 | 10 | 29 | 29 | Gliclazide (120mg) | 8.1 | 65 |
| KCNJ11 4 | R201C | Presumed de novo | F | 36 | 5 | 27 | 34 | Glyburide (40mg) | 7.0 | 53 |
| KCNJ11 5 | R201C | De novo | M | 19 | 6 | 13 | 13 | Glyburide 27.5mg | 5.4 | 36 |
| KCNJ11 6 | V252G | De novo | M | 28 | 8 | 21 | 21 | Glyburide (85mg) | 10.8 | 95 |
| KCNJ11 7 | V59M | De novo | F | 25 | 15 | 17 | 17 | Glyburide (7.5mg) | 8.1 | 65 |
| KCNJ11 8 | V59M | De novo | M | 17 | 5 | 10 | 11 | Glyburide (55mg) | 5.9 | 41 |
| INS 1 | C43F | Autosomal dominant | F | 35 | 78 | 31 | N/A | Insulin | NK | NK |
| INS 2 | F48C | Presumed de novo | F | 50 | 5 | 42 | N/A | Insulin | NK | NK |
| INS 3 | G75C | De novo | M | 28 | 8 | 26 | N/A | Insulin | 7.9 | 63 |
| INS 4 | H29D | De novo | F | 20 | 26 | 12 | N/A | Insulin (pump) | 8.2 | 66 |
| KCNJ11 group | N/A | De novo = 7 (87.5%) Autosomal dominant = 1 (12.5%) | M = 5 (63%) F = 3 (37%) | 26.5 (17-36) | 5.5 (2-15) | 19 (10-29) | 21 (11-34) | Insulin treated = 1/8 | 8.1 (5.4-10.8) | 65 (36-95) |
| INS group | N/A | De novo = 3 (75%) Autosomal dominant = 1 (25%) | M = 1 (25%) F = 3 (75%) | 31.5 (20-50) | 17 (5-78) | 28.5 (12-42) | N/A | Insulin treated = 4/4 | 8.1 (7.9-8.2) | 65 (63-66) |
| P value | N/A | 1.0 | 0.55 | 0.44 | 0.15 | 0.23 | N/A | 0.01 | 0.79 | 0.79 |
Summary numerical data are presented as median (range) and categorical variables are presented as n (%). Mutations were presumed to have arisen de novo if there was no parental history of diabetes but the mutation status of the parents had not been confirmed with a genetic test. HbA1c values are the results available closest to the time of the neurobehavioral assessment. N/A = not applicable, NK = not known.