title: Aetiopathology and genetic basis of neonatal diabetes.
abstract: A British Paediatric Association Surveillance Unit* study of neonatal diabetes determined a national incidence of 1 in 400,000 live births. Additional cases of transient neonatal diabetes were collected retrospectively. Most cases were of low birthweight at term: none had evidence of an autoimmune aetiopathogenesis. The median requirement for exogenous insulin treatment was three months. A significant number of cases developed type 2 diabetes in later life. Three of the 11 cases were found to have paternal uniparental isodisomy of chromosome 6. A further patient carried an unbalanced duplication of 6q 22-23, inherited from the father, which localised a potentially imprinted gene for diabetes to this region. The fact that low birthweight predisposes to type 2 diabetes in later life is well established, but a genetic defect that may relate both to intrauterine growth failure and the development of type 2 diabetes in later life has now been identified.
authors.affiliation: Institute of Child Health, St Michael's Hill, Bristol.
authors.forename: J P
authors.initials: JP
authors.lastname: Shield
authors.forename: R J
authors.initials: RJ
authors.lastname: Gardner
authors.forename: E J
authors.initials: EJ
authors.lastname: Wadsworth
authors.forename: M L
authors.initials: ML
authors.lastname: Whiteford
authors.forename: R S
authors.initials: RS
authors.lastname: James
authors.forename: D O
authors.initials: DO
authors.lastname: Robinson
authors.forename: J D
authors.initials: JD
authors.lastname: Baum
authors.forename: I K
authors.initials: IK
authors.lastname: Temple
mesh_terms: D000782:Aneuploidy; D002896:Chromosomes, Human, Pair 6; D003922:Diabetes Mellitus, Type 1 / Q000209:etiology* / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics; D018392:Genomic Imprinting; D006801:Humans; D007230:Infant, Low Birth Weight; D007231:Infant, Newborn