Table 1 Phenotype of patients carrying ASIP mutation
Patient | A (index) | B | C | D | E | Fraternal twin of E |
|---|---|---|---|---|---|---|
Carrier of ASIP mutation | Yes | Yes | Yes | Yes | Yes | No |
ASIP overexpression in PBLs | Yes | Yes | Yes | Not available | Yes | No |
Sex | Female | Female | Female | Female | Male | Male |
Age (years) | 12.37 | 3.78 | 9.33 | 9.95 | 11.36 | 11.36 |
Pubertal stagea | PH4, B4 | PH1, B1 | PH3, B2 | PH1, B1 | PH2, G1 | PH2, G2 |
Weight (kg) | 156.0 | 25.0 | 60.9 | 60.0 | 89.6 | 62.75 |
Height (cm) | 181.0 | 109.5 | 143.9 | 149.8 | 160.7 | 151.9 |
BMI SDS | 3.75 | 2.65 | 2.83 | 2.40 | 2.89 | 2.22 |
Height SDS | 3.36 | 1.74 | 0.97 | 1.30 | 1.68 | 0.5 |
Hair color | Red | Red | Reddish | Reddish brown | Brown | Brown |
Hyperphagia | Moderate | Severe | Moderate | Moderate | None | None |
Onset of overweight (obesity) | 1st YoL (1st YoL) | 2nd YoL (2nd YoL) | 2nd YoL (3rd YoL) | 1st YoL (2nd YoL) | 1st YoL (5th YoL) | 1st YoL (5th YoL) |
Comorbidities | Hyperinsulinemia, impaired glucose tolerance, hepatic steatosis, hyperuricemia | Hyperuricemia | Hyperinsulinemia, impaired glucose tolerance | Hyperinsulinemia, dyslipidemia | Bronchial asthma, dyslipidemia, global developmental delay | Global developmental delay |
