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, cilt.32, sa.6, ss.412-417, 2013 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 32 Konu: 6
  • Basım Tarihi: 2013
  • Doi Numarası: 10.3109/15513815.2013.789947
  • Sayfa Sayıları: ss.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.