Table 2.
Genetic findings and clinical characteristics of patients with MODY.
| Subject | 1 | 2 | 3 | 4 | 5 |
| Sex | M | M | F | M | F |
| Ethnicity | Tunisian/Caucasian | Caucasian | Turkish | German | Serbo-Croatian |
| Glucose tolerance | IGT | IGT | T2D | IGT | T2D |
| Age (years) | 12.9 | 12.2 | 11.3 | 15.1 | 16.8 |
| BMI (SD-score) | 40 (3.1) | 26.8 (2.06) | 28.1 (2.37) | 28.7 (2.06) | 33.2 (2.58) |
| Therapy | Metformin, insulin after 2 years | Diet | Diet | Diet | Metformin |
| Gene | ABCC8 heterozygous | ABCC8 heterozygous | ABCC8 heterozygous | GCK heterozygous | PTF1A and GLI2 heterozygous |
| DNA-exchange | c.1836G>T | c.1616A>G | c.1616A>G | c.626C>T | c.499G>A c.4145G>A |
| Amino acid exchange | p.Glu612Asp | p.Tyr539Cys | p.Tyr539Cys | p.Thr209Met | p.Ala167Thr p.Arg1382His |
| Disease value | Disease-causing | Disease-causing | Disease-causing | Disease-causing | Disease-causing |
IGT: impaired glucose tolerance; T2D: type 2 diabetes; Ins: insulin; Glu: glucose; AUC: area under the curve; M: male; F: female; BMI: body mass index; SD: standard deviation; ABCC8: ATP binding cassette subfamily C member 8; GCK: glucokinase; PTF1A: pancreas associated transcription factor 1a; GLI2: GLI family zinc finger 2.