Table 2. Clinical data of participants carrying a pathogenic, loss-of-function MRAP2 variant.
| Participants | #1 | #2 | #3 | #4 | #5 | #6 | #7 | #8 | #9 | #10 |
|---|---|---|---|---|---|---|---|---|---|---|
| MRAP2 mutation | c.-3_7del | p.G31V | p.F62C | p.N77S | p.K102* | p.P195L | p.P195L | c.-5_5del | p.N77S | p.P195L |
| Ancestry | Eur | Eur | Eur | Eur | Eur | Eur | Eur | Eur | Eur | Eur |
| Age at investigation (yrs) | 44 | 48 | 44 | 43 | 61 | 61 | 49 | 13 | 12 | 17 |
| Sex (M/F) | F | F | M | M | F | F | F | F | M | F |
| BMI | 49.3 | 30.1 | 25.3 | 49.6 | 25.3 | 32.81 | 27.9 | 34.8 | 30.9 | 29.7 |
| BMI-for-age (percentile) | - | - | - | - | - | - | - | 99th | 99th | 95th |
| Obesity | Class III | Class I | Overweight | Class III | Overweight | Class I | Overweight | Severe obesity | Severe Obesity | Obesity |
| Age of obesity onset (yrs) | - | - | - | - | - | - | - | - | 2 | 8 |
| Obesity during childhood or adolescence | Yes | - | - | Yes | - | - | - | Yes | Yes | Yes |
| Eating behavior | Continuous diet | None | Snacking | Continuous diet | None | - | Bulimia - Snacking | - | Overeating - Snacking | Overeating - Bulimia |
| Treatment | Antidepressant | AHT | None | None | Cholesterol lowering drug | AHT / Cholesterol lowering drug | None | - | None | None |
| Fasting glucose (mmol/L) | 7.21 | 6.14 | 6.05 | 5.50 | 5.77 | 6.16 | 6.59 | 5.30 | 5.70 | 4.33 |
| 2h glucose during an OGTT (mmol/L) | 11.4 | - | - | 5.70 | - | 12.5 | - | - | 7.20 | 5.66 |
| Fasting insulin (pmol/L) | 122 | 149 | 35.9 | 25.0 | 57.7 | 97.2 | 74.5 | 37.0 | 181 | 88.9 |
| HOMA2-%B | 83.0 | 129 | 49.6 | 38.8 | 75.4 | 95.1 | 69.4 | 66.0 | 170 | 178 |
| HOMA2-IR | 2.44 | 2.85 | 0.710 | 0.490 | 1.12 | 1.89 | 1.48 | 0.710 | 3.38 | 1.58 |
| Waist-hip ratio | 1.01 | 0.902 | 0.918 | 0.947 | 0.960 | - | 0.852 | - | 1.06 | 0.866 |
| Waist circumference (cm) | 131 | 101 | 90 | 142 | 95 | - | 92 | - | 103 | 103 |
| SBP (mmHg) | - | 140 | 138 | 160 | 143 | 150 | 128 | - | 120 | - |
| DBP (mmHg) | - | 85 | 80 | 100 | 93 | 90 | 80 | - | 80 | - |
| TC (mmol/L) | 5.28 | 6.66 | 7.07 | 3.66 | 5.40 | 9.00 | 6.53 | - | 5.06 | 4.62 |
| HDL (mmol/L) | 0.820 | 1.19 | 1.21 | 1.08 | 1.63 | 1.44 | 1.83 | - | 1.08 | 1.39 |
| TG (mmol/L) | 1.19 | 1.62 | 0.980 | 1.77 | 1.00 | 4.67 | 1.72 | - | 2.27 | 0.900 |
| Hypertension | - | Yes | Yes | Yes | Yes | Yes | No | - | No | - |
| Diabetes | T2D | PD | PD | NGT | PD | T2D | PD | NGT | PD | NGT |
| Metabolic syndrome | Yes | Yes | Yes | Yes | Yes | Yes | Yes | - | Yes | No |
AHT, antihypertensive drug; BMI, body mass index; DBP, diastolic blood pressure; Eur, European; F, female; HDL, high-density lipoprotein; HOMA2-%B, homeostasis model assessment of steady state beta-cell function; HOMA2-IR, homeostasis model assessment of insulin resistance; M, male; NGT, normal glucose tolerance; OGTT, oral glucose tolerance test; PD, prediabetes; SBP, systolic blood pressure; T2D, type 2 diabetes; TC, total cholesterol; TG, triglycerides; yrs, years.