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 | |