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Human Molecular Genetics, 2000, Vol. 9, No. 4 589-596
© 2000 Oxford University Press

An imprinted locus associated with transient neonatal diabetes mellitus

Rebecca J. Gardner+, Deborah J.G. Mackay+, Andrew J. Mungall1, Constantin Polychronakos2, Reiner Siebert3, Julian P.H. Shield4, I. Karen Temple5 and David O. Robinson§

Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, UK, 1The Sanger Centre, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK, 2MTL, Children’s Hospital Research Institute, Room 236, 4060 St Catherine Street West, Westmount, Quebec, Canada H3Z 2Z3, 3Department of Human Genetics, University of Kiel, 24105 Kiel, Germany, 4Institute of Child Health, St Michael’s Hill, Bristol BS2 8BJ, UK and 5Wessex Clinical Genetics Service, The Princess Anne Hospital, Southampton SO16 5YA, UK

Recently, we reported the localization of a gene for transient neonatal diabetes mellitus (TNDM), a rare form of childhood diabetes, to an ~5.4 Mb region of chromosome 6q24. We have also shown that TNDM is associated with both paternal uniparental disomy (UPD) of chromosome 6 and paternal duplications of the critical region. The sequencing of P1-derived artificial chromosome clones from within the region of interest has allowed us to further localize the gene and to investigate the methylation status of the region. The gene is now known to reside in a 300–400 kb region of 6q24 which contains several CpG islands. At one island we have demonstrated differential DNA methylation between patients with paternal UPD of chromosome 6 and normal controls. In addition, two patients with TNDM, in whom neither paternal UPD of chromosome 6 nor duplication of 6q24 have been found, show a DNA methylation pattern identical to that of patients with paternal UPD of chromosome 6. Control individuals show a hemizygous methylation pattern. These results show that TNDM can be associated with a methylation change and identify a novel methylation imprint on chromosome 6 associated with TNDM.

+ These authors contributed equally to this work

§ To whom correspondence should be addressed. Tel: +44 1722 336262 ext. 4080; Fax: +44 1722 338095; Email: drobinso@hgmp.mrc.ac.uk


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