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Table 2 Clinical characteristics of the 26 individuals genotyped in two families

From: Two novel variants in DYRK1B causative of AOMS3: expanding the clinical spectrum

Family/mutation ID Gender Age (years) OB/Age of onset (years) BMI (Kg/m2) BMI before T2D T2D/Age of diagnosis (years) FG (mg/dL) HbA1c (%) Previous diagnosis of Dyslipidemia/Age of diagnosis (years) TG (mg/dL) Chol (mg/dL) HDL (mg/dL) HTN/Age of diagnosis  (years) SBP (mmHg) DBP (mmHg)
F1/p.Arg252His Non-carriers IV.6 M 12 No 24 NA No 89 No 145 174 35 No 115 71
IV.4 M 13 No 19.7 NA No 83 5.3 No 86 110 41 No 114 58
IV.2 F 18 No 26.4 NA No 83 5.3 No 109 209 73 No 104 68
III.7 M 42 Yes/42 31.6 NA No 68 No 118 192 34 No 127 83
III.6 F 41 Yes/41 32.5 NA No 67 5.5 No 83 143 31 No 110 71
Carriers IV.5 M 11 Yes/Childhood 30 NA No 98 5.5 No 130 138 49 No 108 65
III.10 F 34 Yes/Childhood 35.6 35.6 Yes/34 168 9.1 Yes/29 479 179 23 No 123 87
III.8 F 45 Yes/Childhood 36.7 42.3 Yes/43 165 7.7 Yes/44 412 192 36 No 106 66
III.5 M 46 Yes/Childhood 41.5 47.8 Yes/41 120 6.8 Yes/30 341 146 39 Yes/41 107 70
II.5 F 69 Yes/Childhood 33.8 35.7 Yes/41 124 8.9 Yes/62 249 241 57 Yes/62 145 72
Average ± SD carriers with T2D 48.5 ± 14.7 36.9 ± 3.2 40.3 ± 5.8* 39.7 ± 3.9 144.2 ± 25.7* 8.1 ± 1.0* 41.2 ± 15.4 370.2 ± 98.5 189.5 ± 39.4 38.7 ± 14.0 51.5 ± 14.8 120.2 ± 18.2 73.7 ± 9.1
F2/p.Lys68Gln Non-carriers III.21 M 11 No 18.6 NA No 86 No 48 190 48 No 106 85
III.5 F 12 No 16.9 NA No 75 No 75 132 38 No 106 65
III.20 F 14 No 25.4 NA No 88 No 83 223 69 No 109 75
III.12 M 17 Yes/17 37 NA No 90 No 106 211 32 No 126 79
III.2 F 22 No 21.5 NA No 82 No 59 171 40 No 99 60
III.1 F 27 No 29.5 NA No 75 No 87 168 41 No 102 43
III.10 M 35 No 20.7 NA No 81 No 56 135 41 No 112 70
II.15 F 36 No 25.9 NA No 94 No 79 107 40 No 117 79
II.13 F 41 No 24.5 NA No 77 No 66 214 76 No 110 62
II.2 F 49 Yes/44 38.8 NA No 109 6.1 No 105 131 29 Yes/44 132 87
II.1 F 50 Yes/50 31.4 NA No 89 No 85 174 48 No 134 76
I.2 F 70 No 20.7 NA No 85 No 75 203 71 No 122 72
Carriers III.19 M 18 No 26.4 NA No 102 5.9 Yes/16 125 123 28 No 131 74
III.18 M 27 Yes/Childhood 40.4 50.8 Yes/18 276 12.5 Yes/24 231 192 38 No 137 83
II.14 M 40 Yes/Childhood 51.9 55.6 Yes/29 257 14.5 Yes/37 650 245 NA Yes/40 149 87
II.12 F 49 Yes/Childhood 33.4 50.8 Yes/31 228 11.2 Yes/31 226 166 42 Yes/45 128 64
  Average ± SD carriers with T2D 38.7 ± 11 41.9 ± 9.3 52.4 ± 2.8* 26 ± 7 253.6 ± 24.1* 12.7 ± 1.7* 30.67 ± 6.51 369 ± 243.3 201 ± 40.2 40 ± 2.8 42.5 ± 3.5 138 ± 10.5 78 ± 12.2
  1. ID, identification; OB, obesity; BMI, body mass index; T2D, type 2 diabetes; FG, fasting glucose; HbA1c, glycosylated hemoglobin; TG, triglyceride; Chol, total cholesterol; HDL, high density lipoprotein; HTN, hypertension; SBP, systolic blood pressure; DBP, diastolic blood pressure; M, male; F, female; NA, not apply; †, referred value by the patient; SD, standard deviation.
  2. *Adjusted p-value by gender < 0.05 when contrast average value of p.Arg252His with T2D and the average value of p.Lys68Gln with T2D