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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]
  1. The clinical characteristics of 70 Danish patients with known mutations in GCK, HNF1A, HNF1B, HN4A, INS or KCNJ11.