Table 2.
Clinical and metabolic profile of Patients P1 and P2 with loss-of-function ARL15 variants.
| P1 | P2 | Reference Range | |
|---|---|---|---|
| Age, years | 53 | 22 | |
| ARL15 variant | p.Pro26ThrfsTer9 | c.254-2 A > G (g.54113409 A > G) | |
| B.M.I., kg/m2 | 30.9 | 20.2 | 19–25 |
| % Fat Mass: | |||
| Arms: | 40.2 | 20.2 | 35.7–42.9§ |
| Legs: | 16.4 | 25.6 | 38.4–46.0§ |
| Trunk: | 39.6 | 46.2 | 44.1–48.8§ |
| Liver triglyceride content, % | 24.7 (<5.5) | 8 (<5) | ¥ |
| HbA1c, mmol/mol | 60 | 35 | <42 |
| Glucose, mg/dL | 94 | 67 | <100 |
| Insulin, pmol/L | 76 | 395 | 0–60 |
| Free fatty acids, mg/dL | 8.5 | 9.1 | 8–25 |
| Adiponectin, mg/L | 3.5 (2.6–14.9) | 4.5 (4.4–17.7) | ** |
| Leptin, μg/L | 40.1 (14.9–60.2) | 38.1 (2.4–24.4) | ** |
| Triglyceride, mg/dL | 399 | 301 | <175 |
| HDL-cholesterol, mg/dL | 37 | 35 | >42 |
| LDL-cholesterol, mg/dL | # | 100 | <85 |
| ALT, mU/L | 36 | 133 | 9–52 |
| Testosterone, ng/dL | 98 | 187 | <60 |
| Cortisol, μg/dL | 18.6 | N/A | 5–25 |
| Medication | Metformin Insulin (228U/day) Prednisolone (5 mg/day) Acipimox Ciprofibrate Spironolactone Flutamide | Metformin Thyroxine Fenofibrate Orlistat | |
¥Method specific references ranges are given in brackets; **sex and B.M.I.-adjusted normal range shown in brackets; #could not be calculated. §Controls were 37 adult female volunteers with BMI >30 kg/m2.