Journal Article

Further Evidence for an Imprinted Gene for Neonatal Diabetes Localised to Chromosome 6q22–q23

I. Karen Temple, Rebecca J. Gardner, David O. Robinson, Mohammed S. Kibirige, Arthur W. Ferguson, J. David Baum, John C. K. Barber, Rowena S. James and Julian P. H. Shield

in Human Molecular Genetics

Volume 5, issue 8, pages 1117-1121
Published in print August 1996 | ISSN: 0964-6906
Published online August 1996 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/5.8.1117
Further Evidence for an Imprinted Gene for Neonatal Diabetes Localised to Chromosome 6q22–q23

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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.

Journal Article.  3285 words.  Illustrated.

Subjects: Genetics and Genomics

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