Table 2.
Carrying of pathogenic gene mutations in 10 children with CHI that was spontaneously relieved
| Case no | Gene mutation | Amino acid mutation | Source of mutation | Curative effect of diazoxide | Age of spontaneous remission |
|---|---|---|---|---|---|
| ABCC8 gene | |||||
| 5 | c.3650G>A | p.R1217K | Maternal genetic | Effective | 1 year old |
| 10 | c.4513G>C | p.D1505H | de novo | Invalid | 1 year old |
| 39 | c.3455C>T | p.A1152V | Maternal genetic | Unused | 5 months |
| 42 |
c.1919C>T c.3586C>T |
p.A640V p.Q1196X |
de novo s Paternal genetic |
Effective | 1 year old |
| 45 |
c.3000C>A c.824G>A |
p.C1000X p.R275Q |
Paternal genetic de novo |
Effective | 2 years old |
| 49 | c.4478G>A | p.R1493Q | Paternal genetic | Invalid | 10 months |
| 54 | c.12Cdel | Frameshift mutations | Paternal genetic | Invalid | 6 months |
| 64 | c.1484G>A | p.R495Q | Paternal genetic | Unused | 1 year and 9 months |
| GLUD1 gene | |||||
| 92 | c.1388A>G | p.N463S | de novo | Unused | 9 years old |
| SLC16A1 gene | |||||
| 91 | c.1486C>T | p.496E>K | Maternal genetic | Effective | 4 years and 2 months |