Table 1. Clinical and biochemical characterization of probands and relatives with the PLIN1 439fs mutation.
| Proband A | I.2 | II.1 | II.4 | Proband B | Mother | Reference Range | |
|---|---|---|---|---|---|---|---|
| PLIN1 mutation | 439fs | 439fs | 439fs | 439fs | 439fs | 439fs | |
| Age (years) | 56 | 55 | 38 | 18 | 15 | 48 | |
| Gender | Female | Male | Female | Male | Male | Female | |
| BMI (kg/m2) | 31.2 | 25.4 | 30.4 | 29.1 | 25.1 | 21.8 | |
| Fat distribution | Limb and femorogluteal lipodystrophy | Limb and femorogluteal lipodystrophy | Limb and femorogluteal lipodystrophy | Limb and femorogluteal lipodystrophy | Limb and femorogluteal lipodystrophy | Limb and femorogluteal lipodystrophy | |
| Polycystic ovary syndrome | - | NA | + | NA | NA | + | |
| Fatty Liver | + | ND | + | ND | + | + | |
| Pancreatitis | + | - | - | - | - | + | |
| Cardiomyopathy | + | - | - | - | - | + | |
| DEXA FMR | 1998- 1.4; 2005- 1.9; 2010- 1.9 | 2.2 | ND | ND | ND | ND | Lipodystrophy if FMR>1.2 |
| Total Cholesterol (mmol/L) | 10.5 | 4.6 | 5.5 | 4.1 | 4.4 | 3.0 | <5.2 |
| Triglyceride (mmol/L) | 56.1 | 2 | 6.1 | 2.3 | 26.3 | 2.2 | <1.7 |
| HbA1c (mmol/mol) (%) | 63 (7.9%) | 79 (9.4%) | 59 (7.5%) | 51 (6.8%) | 32 (5.1%) | 97 (11.0%) | <53.0 (7.0%) |
| Glucose (mmol/L) | 11.3 | 6.4 | ND | 4.8 | 5.1 | 14.4 | <6.1 |
| Insulin (pmol/L) | ND | 17 | ND | ND | 285 | 169 | <60 |
| Leptin (ng/mL) | 2.9 | 2.8 | 3.8 | ND | 2.1 | 3.6 | 3.7-11.1 |
BMI, body mass index; NA, not applicable; ND, not determined; DEXA, dual X–ray absorptiometry; FMR ,Fat Mass Ratio (% fat trunk to % fat lower limb ratio);