Table 3 Mutations found in 61 patients with CHH
From: Clinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic Hypoglycemia
Gene | Exon | Mutation | Number of patients |
|---|---|---|---|
ABCC8 | 1 | c.72C > A | 4 |
c.134C > T | 2 | ||
2 | c.257 T > G | 1 | |
3 | c.331G > A | 1 | |
4 | c.563A > G | 1 | |
5 | c.742C > T | 1 | |
12 | c.1792C > T | 1 | |
31 | c.3992-9G > A | 2 | |
36 | c.4415-13G > A | 2 | |
KCNJ11 | c.801C > G | 2 | |
c.808C > G | 2 | ||
2 c.1142G > A. | 2 | ||
GLUD1 | 6 | c.37266C > T | 1 |
7 | c.1019A > G | 7 | |
10 | c.49322G > T | 1 | |
GCK | 6 | c.1115C > T | 2 |
10 | c.1829G > T | 1 |