Clinical heterogeneity of hyperinsulinism due to HNF1A and HNF4A mutations.

ABSTRACT:

Background

Dominant inactivating mutations in HNF1A and HNF4A have been described to cause hyperinsulinism (HI) before evolving to diabetes. However, information available in the literature regarding the clinical phenotype is limited.

Objective

To report the prevalence of HNF1A and HNF4A mutations in a large cohort of children with HI, and to describe their genotypes and phenotypes.

Design

Retrospective descriptive study.

Methods

Medical records were reviewed to extract clinical information. Mutation analysis was carried out for 8 genes associated with HI (ABCC8, KCNJ11, GLUD1, GCK, HADH, HNF4A, HNF1A, and UCP2).

Results

HNF1A and HNF4A mutations were identified in 5.9% (12 out of 204; HNF1A = 7, HNF4A = 5) of diazoxide-responsive HI probands. The clinic

SUBMITTER: Tung JY 

PROVIDER: S-EPMC6030428 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature