Germline and somatic mutations in histologically atypical congenital hyperinsulinism.

ABSTRACT:

Background

In histologically atypical congenital hyperinsulinism (CHI), correlations between clinical, histological and genetic features are largely unknown. Laser-capture microdissection may be used to identify low-grade mosaic DNA variants in the islets of Langerhans.

Aim

To investigate genotype-histotype-phenotype correlations histologically in atypical CHI.

Methods

In our single-center cohort of hyperinsulinemic hypoglycemia (HH) patients, 77 underwent pancreatic surgery. In those with histologically atypical CHI, genetic analyses included sequencing of frequent CHI genes from blood and bulk pancreatic tissue and tests for Beckwith-Wiedemann Syndrome (BWS) where appropriate. If negative, a targeted 140-gene panel including the non-coding region of HK1 was p

SUBMITTER: Larsen AR 

PROVIDER: S-EPMC12812534 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature