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Neonatal hyperinsulinaemic hypoglycaemia and monogenic diabetes due to a heterozygous mutation of the HNF4A gene |
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| Authors: | Jennifer J. CONN Peter J. SIMM Jeremy J. N. OATS Alison J. NANKERVIS Susan E. JACOBS Sian ELLARD Andrew T. HATTERSLEY |
| Affiliation: | Diabetes Service, Royal Women's Hospital, Parkville, Victoria, Australia,;Department of Endocrinology and Diabetes, Royal Children's Hospital, Parkville, Victoria, Australia,;Neonatal Services, Royal Women's Hospital, Parkville, Victoria, Australia,;Department of Molecular Genetics, Royal Devon &Exeter NHS Foundation Trust, Exeter, UK, and;Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK |
| 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. |
| Keywords: | HNF4A gene mutation monogenic diabetes neonatal hypoglycaemia |