Table 5 Phenotype information
From: Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model
Gene | n | Sex (m/f) | Age at examination (years) [NA] | Age at diagnosis (years) [NA] | Height (cm) [NA] | Weight (kg) [NA] | BMI (kg/m2) [NA] | HbA1c (%) | Treatment (ins/ins + OHA/OHA/diet) [NA] |
|---|---|---|---|---|---|---|---|---|---|
GCK | 26 | 10/16 | 23.84 (1.4-73) [1] | 16.26 (1.4-35) [3] | 155.55 (80-176) [5] | 55.53 (12-95.5) [4] | 21.63 (13.46-37.59) [4] | 6.56 (5.9-8.1) [3] | 1/1/5/17 [2] |
HNF1A | 28 | 14/14 | 35.14 (8-60) [0] | 23.24 (8-49) [3] | 171.45 (155-188.5) [8] | 71.48 (50.8-106.6) [8] | 24.26 (18.82-37.77) [8] | 7.42 (5.5-9.4) [8] | 7/1/10/5 [5] |
HNF1B | 2 | 0/2 | 29.5 (26-33) [0] | 29 (26-32) [0] | 167 (162-172) [0] | 58.25 (55.4-61.1) [0] | 21.00 (18.73-23.28) [0] | 6.05 (5.6-6.5) [0] | 1/0/1/0 [0] |
HNF4A | 9 | 1/8 | 22.33 (4-35) [0] | 15.67 (4-34) [0] | 157.19 (96.5-183) [1] | 57.34 (15.4-81.3) [1] | 22.17 (16.54-25.59) [1] | 7.09 (5.5-8.4) [1] | 3/1/0/5 [0] |
INS | 2 | 2/0 | 39.5 (35-44) [0] | 10.6 (0.2-21) [0] | 171.5 (169-174) [0] | 72.2 (71-73.4) [0] | 24.55 (24.24-24.86) [0] | 6.8 (5.9-7.7) [0] | 1/0/1/0 [0] |
KCNJ11 | 3 | 2/1 | 6.83 (3.5-13) [0] | 0.33 (0.2-0.5) [0] | 131.5 (108-155) [1] | 29.9 (20.8-39) [1] | 17.03 (16.23-17.83) [1] | 7.37 (6.4-8.1) [0] | 3/0/0/0 [0] |
Total | 70 | 29/41 | 28.11 (1.4-73) [1] | 18.38 (0.2-49) [6] | 161.69 (80-188.5) [15] | 61.26 (12-106.6) [14] | 22.58 (13.46-37.77) [15] | 6.96 (5.5-9.4) [12] | 16/3/17/27 [7] |