Table 1 ABCC8 mutated patients (ChD)
| Â | Sex | Genotype | Family History | Birth | HY Onset | Treatment | Follow-Up | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Hypoglycaemia | Diabetes (IFG/IGT) | At Term | LGA | < 72 h | Postneonatal | Dx responsiveness | Surgery | DM | Obesity | Neurological Impairment | Duration (years) | |||
1 | M | Maternal Dominant c.G4435 > A (p.G1479R) | + | + | + | + | + | – | – | – | + | – | – | 6 |
2 | M | Maternal Dominant c.G4435 > A; (p.G1479R) | + | + | – | + | + | – | – | – | + | – | – | 3 |
3 | M | Maternal Dominant c.4616G > A; (p.R1539Q) | + | + | + | + | + | – | + | – | – | + | – | 6 |
4 | M | Maternal Dominant c.3088G > T; (p.D1030Y) | – | + | + | + | + | – | + | – | – | + | – | 8 |
5 | F | Paternal Dominant c.172G > A; (p.V58M) | – | – | + | – | – | + | + | – | – | + | + | 22 |
6 | M | De novo Dominant c.4519G > A; (p.E1507K) | – | – | + | + | + | – | + | – | – | + | – | 22 |
7 | M | De novo Dominant c.3133_3152del2; (p.T1045fs) | – | – | + | – | + | – | – | + | + | – | + | 20 |
8 | M | Dominant c.1333-1013A > G (a) | – | + | – | – | + | – | + | – | – | – | – | 6 |
9 | M | Compound Heterozygous c.[916C > T] + [c.4433G > A] (p.[R306C] + [p.G1478E]) | + | + | – | + | + | – | – | – | – | – | + | 3 |
10 | M | Compound Heterozygous c.[1960G > T] + [4559 T > C] (p.[E654X] + [L1520P]) | – | – | – | + | + | – | – | + | + | – | + | 21 |
11 | F | Compound Heterozygous c.[3632 T > G] + not found 2nd mut (p.L1211R) | – | + | – | + | + | – | + | – | – | + | – | 12 |
12 | F | Recessive c.4559 T > C; (p.L1520P) | – | – | + | + | + | – | – | + | – | – | – | 21 |