Human Molecular Genetics, Vol 5, 1117-1121, Copyright © 1996 by Oxford University Press
IK Temple, RJ Gardner, DO Robinson, MS Kibirige, AW Ferguson, JD Baum, JC Barber, RS James and JP Shield
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.
ARTICLES
Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23
Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, Hampshire, UK.
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