title: Neonatal hyperinsulinaemic hypoglycaemia and monogenic diabetes due to a heterozygous mutation of the HNF4A gene.
abstract: Recent research has demonstrated that mutations of the hepatocyte nuclear factor 4-alpha (HNF4A) gene are associated with neonatal hyperinsulinaemic hypoglycaemia. Mutations of this gene also cause one of the subtypes of monogenic diabetes, a form of diabetes formerly known as maturity-onset diabetes of the young. This article describes a family discovered to have a novel frame-shift mutation of the HNF4A gene in the setting of early-onset maternal diabetes and severe neonatal hyperinsulinaemic hypoglycaemia. The implications of a diagnosis of HNF4A gene mutation for obstetric and paediatric practice are discussed.
authors: Jennifer J
authors: JJ
authors: Conn
authors: Peter J
authors: PJ
authors: Simm
authors: Jeremy J N
authors: JJ
authors: Oats
authors: Alison J
authors: AJ
authors: Nankervis
authors: Susan E
authors: SE
authors: Jacobs
authors: Sian
authors: S
authors: Ellard
authors: Andrew T
authors: AT
authors: Hattersley
mesh_terms: D044903:Congenital Hyperinsulinism / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D005320:Fetal Macrosomia; D016368:Frameshift Mutation; D051557:Hepatocyte Nuclear Factor 4 / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011254:Pregnancy in Diabetics / Q000235:genetics*
chemical_list: D051557:Hepatocyte Nuclear Factor 4