A Novel Mutation in ABCC8 Gene in a Newborn with Congenital Hyperinsulinism - A Case Report

Ustun N., Dilli D., Kundak A. A. , Okumus N., Erdogan D., Apaydin S.

FETAL AND PEDIATRIC PATHOLOGY, vol.32, no.6, pp.412-417, 2013 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 32 Issue: 6
  • Publication Date: 2013
  • Doi Number: 10.3109/15513815.2013.789947
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.412-417


Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy. The genetic basis of CHI includes a variety of defects in key genes regulating insulin secretion. Mutations in at least seven genes are found in 50% of cases. The most common forms of medically unresponsive CHI, which requires a near-total pancreatectomy are associated with autosomal recessive mutations in the ABCC8 and KCNJ11 genes encoding the two subunits of the pancreatic beta-cell ATP-sensitive potassium channel. We report a neonate with CHI and have a novel homozygous splicing mutation in the ABCC8 gene.