Table 2.
Mutation Analysis in 118 Diazoxide-Responsive Children With Congenital HI
| No. of Probands | |
|---|---|
| Mutation positive | 56 (47%) |
| GLUD1 | 24a (42%) |
| Dominant KATP | 23b (41%) |
| ABCC8, monoallelic dominant (n = 19) | |
| KCNJ11, monoallelic dominant (n = 4) | |
| HADH | 2c (4%) |
| UCP2 | 2 (4%) |
| HNF4A | 2 (4%) |
| HNF1A | 3 (5%) |
| Mutation negative | |
| Negative for ABCC8, KCNJ11, GCK, and GLUD1 | 62d (53%) |
| Also negative for HADH, UCP2, and HNF4A | 55 (89%) |
a
One patient has a postzygotic mutation of GLUD1.
b
One patient possesses the ABCC8 c.3992–9 G→A on the maternal allele along with a dominant mutation (ABCC8 p.K1337N) on the paternal allele and was diazoxide-responsive.
c
One patient has a confirmed mutation in HADH along with a second suspected disease-causing mutation.
d
One patient has a presumed postzygotic mutation of GLUD1.