caa a22 4500 397575289 CHVBK 20180308164854.0 cr unu---uuuuu 161202e199608 xx s 000 0 eng 10.1093/hmg/5.8.1117 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.8.1117 Further Evidence for an Imprinted Gene for Neonatal Diabetes Localised to Chromosome 6q22-q23 [Elektronische Daten] [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, Julian P. H. 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. © 1996 Oxford University Press Temple I. Karen Wessex Clinical Genetics Service, Princess Anne Hospital, Coxford Road, Southampton, Hampshire, SO16 5YA, UK aut Gardner Rebecca J. Wessex Regional Genetics Laboratory, Salisbury, UK aut Robinson David O. Wessex Regional Genetics Laboratory, Salisbury, UK aut Kibirige Mohammed S. South Cleveland Hospital, Cleveland, UK aut Ferguson Arthur W. Bedford Hospital, Bedford, UK aut Baum J. David Department of Child Health, Institute of Child Health, University of Bristol, Bristol, UK aut Barber John C. K. Wessex Regional Genetics Laboratory, Salisbury, UK aut James Rowena S. Wessex Regional Genetics Laboratory, Salisbury, UK aut Shield Julian P. H. Department of Child Health, Institute of Child Health, University of Bristol, Bristol, UK aut Human Molecular Genetics Oxford University Press 5/8(1996-08), 1117-1121 0964-6906 5:8<1117 1996 5 hmg https://doi.org/10.1093/hmg/5.8.1117 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.8.1117 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Temple I. Karen Wessex Clinical Genetics Service, Princess Anne Hospital, Coxford Road, Southampton, Hampshire, SO16 5YA, UK aut NATIONALLICENCE 700 1- Gardner Rebecca J. Wessex Regional Genetics Laboratory, Salisbury, UK aut NATIONALLICENCE 700 1- Robinson David O. Wessex Regional Genetics Laboratory, Salisbury, UK aut NATIONALLICENCE 700 1- Kibirige Mohammed S. South Cleveland Hospital, Cleveland, UK aut NATIONALLICENCE 700 1- Ferguson Arthur W. Bedford Hospital, Bedford, UK aut NATIONALLICENCE 700 1- Baum J. David Department of Child Health, Institute of Child Health, University of Bristol, Bristol, UK aut NATIONALLICENCE 700 1- Barber John C. K. Wessex Regional Genetics Laboratory, Salisbury, UK aut NATIONALLICENCE 700 1- James Rowena S. Wessex Regional Genetics Laboratory, Salisbury, UK aut NATIONALLICENCE 700 1- Shield Julian P. H. Department of Child Health, Institute of Child Health, University of Bristol, Bristol, UK aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/8(1996-08), 1117-1121 0964-6906 5:8<1117 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford