Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.

ABSTRACT:

Context

Hypoglycemia due to congenital hyperinsulinism (HI) is caused by mutations in 9 genes.

Objective

Our objective was to correlate genotype with phenotype in 417 children with HI.

Methods

Mutation analysis was carried out for the ATP-sensitive potassium (KATP) channel genes (ABCC8 and KCNJ11), GLUD1, and GCK with supplemental screening of rarer genes, HADH, UCP2, HNF4A, HNF1A, and SLC16A1.

Results

Mutations were identified in 91% (272 of 298) of diazoxide-unresponsive probands (ABCC8, KCNJ11, and GCK), and in 47% (56 of 118) of diazoxide-responsive probands (ABCC8, KCNJ11, GLUD1, HADH, UCP2, HNF4A, and HNF1A). In diazoxide-unresponsive diffuse probands, 89% (109 of 122) carried KATP mutations; 2% (2 of 122) had GCK mutations. In mutation-positive diazoxide

SUBMITTER: Snider KE 

PROVIDER: S-EPMC3565119 | biostudies-literature | 2013 Feb

REPOSITORIES: biostudies-literature