Literature DB >> 15924231

Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region.

S G Kant1, A M van der Weij, W Oostdijk, J M Wit, D O Robinson, I K Temple, D J G Mackay.   

Abstract

Transient neonatal diabetes mellitus (TNDM) is associated with paternal over-expression of an imprinted locus on chromosome 6q24, which contains one differentially methylated region (DMR); maternal demethylation at the DMR accounts for approximately 20% of cases. Here we report female monozygous triplets, two of whom have TNDM arising from loss of maternal methylation within the TNDM DMR.

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Year:  2005        PMID： 15924231     DOI： 10.1007/s00439-005-1304-1

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  6 in total

Review 1.  Some causes of genotypic and phenotypic discordance in monozygotic twin pairs.

Authors:  G A Machin
Journal:  Am J Med Genet       Date:  1996-01-22

Review 2.  Transient neonatal diabetes, a disorder of imprinting.

Authors:  I K Temple; J P H Shield
Journal:  J Med Genet       Date:  2002-12       Impact factor: 6.318

3.  Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology.

Authors:  Deborah J G Mackay; I Karen Temple; Julian P H Shield; David O Robinson
Journal:  Hum Genet       Date:  2005-01-06       Impact factor: 4.132

4.  Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome.

Authors:  Rosanna Weksberg; Cheryl Shuman; Oana Caluseriu; Adam C Smith; Yan-Ling Fei; Joy Nishikawa; Tracy L Stockley; Lyle Best; David Chitayat; Ann Olney; Elizabeth Ives; Adele Schneider; Timothy H Bestor; Madeline Li; Paul Sadowski; Jeremy Squire
Journal:  Hum Mol Genet       Date:  2002-05-15       Impact factor: 6.150

5.  An imprinted locus associated with transient neonatal diabetes mellitus.

Authors:  R J Gardner; D J Mackay; A J Mungall; C Polychronakos; R Siebert; J P Shield; I K Temple; D O Robinson
Journal:  Hum Mol Genet       Date:  2000-03-01       Impact factor: 6.150

6.  Imprinting errors and developmental asymmetry.

Authors:  Timothy H Bestor
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2003-08-29       Impact factor: 6.237
  6 in total
  5 in total

Review 1.  Epigenetic mechanisms in developmental programming of adult disease.

Authors:  Man Chen; Lubo Zhang
Journal:  Drug Discov Today       Date:  2011-09-16       Impact factor: 7.851

2.  A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus.

Authors:  D J G Mackay; S E Boonen; J Clayton-Smith; J Goodship; J M D Hahnemann; S G Kant; P R Njølstad; N H Robin; D O Robinson; R Siebert; J P H Shield; H E White; I K Temple
Journal:  Hum Genet       Date:  2006-07-01       Impact factor: 4.132

3.  Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus.

Authors:  D J G Mackay; J M D Hahnemann; S E Boonen; S Poerksen; D J Bunyan; H E White; V J Durston; N S Thomas; D O Robinson; J P H Shield; J Clayton-Smith; I K Temple
Journal:  Hum Genet       Date:  2006-01-05       Impact factor: 4.132

4.  SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions.

Authors:  P Bakrania; D O Robinson; D J Bunyan; A Salt; A Martin; J A Crolla; A Wyatt; A Fielder; J Ainsworth; A Moore; S Read; J Uddin; D Laws; D Pascuel-Salcedo; C Ayuso; L Allen; J R O Collin; N K Ragge
Journal:  Br J Ophthalmol       Date:  2007-05-23       Impact factor: 4.638

5.  DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins.

Authors:  Lene Bjerke Laborie; Deborah J G Mackay; I Karen Temple; Anders Molven; Oddmund Søvik; Pål Rasmus Njølstad
Journal:  Eur J Pediatr       Date:  2009-06-13       Impact factor: 3.183
  5 in total

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