Table 1.
The genotype and phenotype characteristics of probands in three MODY families.
| Proband A | Proband B | Proband C | |
|---|---|---|---|
| Nucleotide change | c.476T>C | c.537G>C | c.778G>A |
| Amino acid change | p.Ile159Thr | p.Trp179Cys | p.Asp260Asn |
| Age (years) | 22 | 16 | 8 |
| Onset age (years) | 22 | 15 | 7 |
| BMI (kg/m2) | 22.02 | 24.61 | 16.58 |
| Birth weight (kg) | 2.9 | 3.3 | 2.45 |
| History of neonatal hypoglycemia | No | No | No |
| FPG (mmol/L) | 6.7 | 5.7 | 6.1 |
| 2h-PG (mmol/L) | 14.7 | 16.3 | 11.4 |
| FINS (μU/ml) | 9.7 | 9 | – |
| 2h-INS (μU/ml) | 22.3 | 24.5 | – |
| Fasting C-peptide (ng/ml) | 1.23 | 1.21 | 0.08 |
| 2h C-peptide (ng/ml) | 4.06 | 4.68 | – |
| HbA1c (%) | 11.88 | 9.3 | 12.5 |
| HOMA-IR | 2.89 | 2.28 | – |
| HOMA-B (%) | 60.63 | 81.82 | – |
| TC (mmol/L) | 3.69 | 3.07 | 3.96 |
| TG (mmol/L) | 1.09 | 0.43 | 0.73 |
| HDL-C (mmol/L) | 0.79 | 0.94 | 2.03 |
| LDL-C (mmol/L) | 2.43 | 2.04 | 1.82 |
| ALT (U/L) | 17 | 14 | 15 |
| AST (U/L) | 29 | 14 | 21 |
| GTT (U/L) | 15 | 14 | 11 |
| ALP (U/L) | 26 | 160 | 185 |
| Antidiabetic therapy | Sulfonylureas | Metformin | Insulin |
BMI, body mass index; FPG, fasting plasma glucose; 2h-PG, 2-hour plasma glucose; FINS, fasting insulin; 2h-INS, 2-hour insulin; HbA1c, glycated hemoglobin; HOMA-IR, homeostasis model assessment of insulin resistance; HOMA-B, homeostasis model assessment of β-cell function. TC, total cholesterol; TG, triglyceride; HDL-C, high-density lipoprotein cholesterol; LDL-C, low-density lipoprotein cholesterol; ALT, alanine aminotransferase; AST, aspartate aminotransferase; GGT, glutamyltranspeptidase; ALP, alkaline phosphatase.