Genotype-phenotype correlation in Taiwanese children with diazoxide-unresponsive congenital hyperinsulinism.

ABSTRACT:

Objective

Congenital hyperinsulinism (CHI) is a group of clinically and genetically heterogeneous disorders characterized by dysregulated insulin secretion. The aim of the study was to elucidate genetic etiologies of Taiwanese children with the most severe diazoxide-unresponsive CHI and analyze their genotype-phenotype correlations.

Methods

We combined Sanger with whole exome sequencing (WES) to analyze CHI-related genes. The allele frequency of the most common variant was estimated by single-nucleotide polymorphism haplotype analysis. The functional effects of the ATP-sensitive potassium (K_ATP) channel variants were assessed using patch clamp recording and Western blot.

Results

Nine of 13 (69%) patients with ten different pathogenic variants (7 in ABCC8

SUBMITTER: Lee CT 

PROVIDER: S-EPMC10687152 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature