Neonatal hyperinsulinaemic hypoglycaemia and monogenic diabetes due to a heterozygous mutation of the HNF4A gene.
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.
Conn
Jennifer J
JJ
Simm
Peter J
PJ
Oats
Jeremy J N
JJ
Nankervis
Alison J
AJ
Jacobs
Susan E
SE
Ellard
Sian
S
Hattersley
Andrew T
AT
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*
D051557:Hepatocyte Nuclear Factor 4