title: A novel mutation in ABCC8 gene in a newborn with congenital hyperinsulinism -a case report.
abstract: 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 β-cell ATP-sensitive potassium channel. We report a neonate with CHI and have a novel homozygous splicing mutation in the ABCC8 gene.
authors.affiliation: 1Department of Neonatology;
authors.forename: Nuran Uzunalic
authors.initials: NU
authors.lastname: Üstün
authors.forename: Dilek
authors.initials: D
authors.lastname: Dilli
authors.forename: Ahmet Afsin
authors.initials: AA
authors.lastname: Kundak
authors.forename: Nurullah
authors.initials: N
authors.lastname: Okumus
authors.forename: Derya
authors.initials: D
authors.lastname: Erdoğan
authors.forename: Sema
authors.initials: S
authors.lastname: Apaydın
mesh_terms: D044903:Congenital Hyperinsulinism / Q000150:complications / Q000235:genetics* / Q000601:surgery; D005260:Female; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation; D010179:Pancreas / Q000473:pathology; D010180:Pancreatectomy; D064233:Sulfonylurea Receptors / Q000235:genetics*
chemical_list: C577507:ABCC8 protein, human; D064233:Sulfonylurea Receptors