Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23

Hum Mol Genet. 1996 Aug;5(8):1117-21. doi: 10.1093/hmg/5.8.1117.


Transient neonatal diabetes mellitus (TNDM) is a rare form of childhood diabetes which usually resolves in the first 6 months of life but which predisposes to type 2 diabetes of adult onset. We recently reported paternal uniparental isodisomy of chromosome 6 (UPD6) in two children with TNDM and proposed that there may be an imprinted gene important in the aetiology of diabetes on chromosome 6. We now describe two unrelated families which independently suggest that the gene is imprinted, is paternally expressed and maps to 6q22-q23. One family has a duplication while the other, with familial TNDM, shows linkage to a marker in this region.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Chromosome Aberrations
  • Chromosomes, Human, Pair 6 / genetics*
  • Diabetes Mellitus / genetics*
  • Diabetes Mellitus, Type 1 / genetics
  • Diabetes Mellitus, Type 2 / genetics
  • Female
  • Genes, Dominant
  • Genetic Linkage
  • Genetic Markers
  • Genomic Imprinting*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • Male
  • Multigene Family
  • Pedigree


  • Genetic Markers