Monday 25 January 2010
Mutations of the hepatocyte nuclear factor 4-alpha (HNF4A) gene are associated with neonatal hyperinsulinaemic hypoglycaemia. (19566570)
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 (MODY).
HNF4A gene is involved when neonate is macrosomic with maturity-onset diabetes of the youth (MODY) in relatives.
Neonatal hyperinsulinaemic hypoglycaemia and monogenic diabetes due to a heterozygous mutation of the HNF4A gene. Conn JJ, Simm PJ, Oats JJ, Nankervis AJ, Jacobs SE, Ellard S, Hattersley AT. Aust N Z J Obstet Gynaecol. 2009 Jun;49(3):328-30. PMID: 19566570