title: Novel mutation c.597_598dup in exon 5 of ABCC8 gene causing congenital hyperinsulinism.
abstract: Congenital hyperinsulinism (CHI), a clinically and genetically heterogeneous disease, characterized by the unregulated secretion of insulin from pancreatic β-cells, is the most common cause of persistent hypoglycemia in infancy. Early diagnosis and maintenance of normoglycaemia are essential to prevent adverse neurodevelopmental outcomes. The most common and severe forms of CHI are caused by inactivating mutations in ABCC8 and KCNJ11 genes, encoding the two subunits of the pancreatic β-cell ATP sensitive potassium channel (KATP). We report a case of neonatal CHI due to a novel homozygous recessive mutation in the ABCC8 gene.
authors.affiliation: Department of Endocrinology, Indraprastha Apollo Hospital, Sarita Vihar, New Delhi, India. Electronic address: radhikajindal@gmail.com.
authors.forename: Radhika
authors.initials: R
authors.lastname: Jindal
authors.affiliation: Department of Pediatrics, Indraprastha Apollo Hospital, Sarita Vihar, New Delhi, India.
authors.forename: Ayesha
authors.initials: A
authors.lastname: Ahmad
authors.affiliation: Department of Endocrinology, Indraprastha Apollo Hospital, Sarita Vihar, New Delhi, India.
authors.forename: Mohammad Asim
authors.initials: MA
authors.lastname: Siddiqui
authors.affiliation: Department of Pediatrics, Indraprastha Apollo Hospital, Sarita Vihar, New Delhi, India.
authors.forename: Inderpal Singh
authors.initials: IS
authors.lastname: Kochar
authors.affiliation: Department of Endocrinology, Indraprastha Apollo Hospital, Sarita Vihar, New Delhi, India.
authors.forename: Subhash Kumar
authors.initials: SK
authors.lastname: Wangnoo
mesh_terms: D001483:Base Sequence; D002096:C-Peptide / Q000097:blood; D044903:Congenital Hyperinsulinism / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology / Q000601:surgery*; D003981:Diazoxide / Q000627:therapeutic use; D005230:Fatty Acids, Nonesterified / Q000097:blood; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D015282:Octreotide / Q000627:therapeutic use; D010180:Pancreatectomy; D017422:Sequence Analysis, DNA; D064233:Sulfonylurea Receptors / Q000235:genetics*; D016896:Treatment Outcome
chemical_list: C577507:ABCC8 protein, human; D002096:C-Peptide; D005230:Fatty Acids, Nonesterified; D064233:Sulfonylurea Receptors; D003981:Diazoxide; D015282:Octreotide
keywords: Congenital hyperinsulinism (CHI); Genes; Insulin; Mutations; Recessive; β-Cells