PT - JOURNAL ARTICLE AU - I K Temple AU - J P H Shield TI - Transient neonatal diabetes, a disorder of imprinting AID - 10.1136/jmg.39.12.872 DP - 2002 Dec 01 TA - Journal of Medical Genetics PG - 872--875 VI - 39 IP - 12 4099 - http://jmg.bmj.com/content/39/12/872.short 4100 - http://jmg.bmj.com/content/39/12/872.full SO - J Med Genet2002 Dec 01; 39 AB - Transient neonatal diabetes (TND) is a rare but distinct type of diabetes. Classically, neonates present with growth retardation and diabetes in the first week of life. Apparent remission occurs by 3 months but there is a tendency for children to develop diabetes in later life. Evidence suggests it is the result of overexpression of an imprinted and paternally expressed gene/s within the TND critical region at 6q24. Two imprinted genes, ZAC (zinc finger protein associated with apoptosis and cell cycle arrest) and HYMAI (imprinted in hydatidiform mole) have been identified as potential candidates. Three genetic mechanisms have been shown to result in TND, paternal uniparental isodisomy of chromosome 6, paternally inherited duplication of 6q24, and a methylation defect at a CpG island overlapping exon 1 of ZAC/HYMAI.