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 |