hrp0097p1-287 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Mutations in exon 28 of ABCC8 gene in Egyptian patients with congenital hyperinsulinism

Abdelghaffar Shereen , Madani Hanan , Ashour Mohammed , Ahmed Yomna , Abdou Maryz

Background: Congenital hyperinsulinism in infancy (CHI) is the most frequent cause of persistent hypoglycemia in infants. The most common and severe form of monogenic CHI is caused by inactivating mutations in ABCC8 and KCNJ11 genes located on chromosome 11p15.1. On the ABCC8 gene; previous studies have shown that mutations were reported to be mostly localized in exon 28. There is no sufficient research in Egyptian population about different mutations in conge...