Literature DB >> 16402210

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

D J G Mackay1, 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.   

Abstract

Transient neonatal diabetes mellitus (TNDM) is characterised by intra-uterine growth retardation, while Beckwith-Wiedemann syndrome (BWS) is a clinically heterogeneous overgrowth syndrome. Both TNDM and BWS may be caused by aberrant loss of methylation (LOM) at imprinted loci on chromosomes 6q24 and 11p15.5 respectively. Here we describe two patients with a clinical diagnosis of TNDM caused by LOM at the maternally methylated imprinted domain on 6q24; in addition, these patients had LOM at the centromeric differentially methylated region of 11p15.5. This shows that imprinting anomalies can affect more than one imprinted locus and may alter the clinical presentation of imprinted disease.

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Year:  2006        PMID： 16402210     DOI： 10.1007/s00439-005-0127-4

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


  18 in total

1.  Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification.

Authors:  Jan P Schouten; Cathal J McElgunn; Raymond Waaijer; Danny Zwijnenburg; Filip Diepvens; Gerard Pals
Journal:  Nucleic Acids Res       Date:  2002-06-15       Impact factor: 16.971

2.  De novo quantitative bisulfite sequencing using the pyrosequencing technology.

Authors:  Jean-Michel Dupont; Jörg Tost; Hélène Jammes; Ivo Glynne Gut
Journal:  Anal Biochem       Date:  2004-10-01       Impact factor: 3.365

Review 3.  DNA methylation and human disease.

Authors:  Keith D Robertson
Journal:  Nat Rev Genet       Date:  2005-08       Impact factor: 53.242

4.  Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome.

Authors:  Wendy N Cooper; Anita Luharia; Gail A Evans; Hussain Raza; Antonita C Haire; Richard Grundy; Sarah C Bowdin; Andrea Riccio; Gianfranco Sebastio; Jet Bliek; Paul N Schofield; Wolf Reik; Fiona Macdonald; Eamonn R Maher
Journal:  Eur J Hum Genet       Date:  2005-09       Impact factor: 4.246

Review 5.  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

6.  Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.

Authors:  Christine Gicquel; Sylvie Rossignol; Sylvie Cabrol; Muriel Houang; Virginie Steunou; Véronique Barbu; Fabienne Danton; Nathalie Thibaud; Martine Le Merrer; Lydie Burglen; Anne-Marie Bertrand; Irène Netchine; Yves Le Bouc
Journal:  Nat Genet       Date:  2005-08-07       Impact factor: 38.330

7.  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

8.  Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain.

Authors:  T Eggermann; N Schönherr; E Meyer; C Obermann; M Mavany; K Eggermann; M B Ranke; H A Wollmann
Journal:  J Med Genet       Date:  2005-10-19       Impact factor: 6.318

9.  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

10.  ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome.

Authors:  Takahiro Arima; Tetsuya Kamikihara; Toshirou Hayashida; Kiyoko Kato; Toshiaki Inoue; Yasuaki Shirayoshi; Mitsuo Oshimura; Hidenobu Soejima; Tunehiro Mukai; Norio Wake
Journal:  Nucleic Acids Res       Date:  2005-05-11       Impact factor: 16.971
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  14 in total

1.  Genetic and epigenetic defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: new hypothesis raised by the finding of a unique case with hemizygotic deletion in the critical region.

Authors:  C Diatloff-Zito; A Nicole; G Marcelin; H Labit; E Marquis; C Bellanné-Chantelot; J J Robert
Journal:  J Med Genet       Date:  2006-09-13       Impact factor: 6.318

Review 2.  Child health, developmental plasticity, and epigenetic programming.

Authors:  Z Hochberg; R Feil; M Constancia; M Fraga; C Junien; J-C Carel; P Boileau; Y Le Bouc; C L Deal; K Lillycrop; R Scharfmann; A Sheppard; M Skinner; M Szyf; R A Waterland; D J Waxman; E Whitelaw; K Ong; K Albertsson-Wikland
Journal:  Endocr Rev       Date:  2010-10-22       Impact factor: 19.871

3.  Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells.

Authors:  Jet Bliek; Marielle Alders; Saskia M Maas; Roelof-Jan Oostra; Deborah M Mackay; Karin van der Lip; Johnatan L Callaway; Alice Brooks; Sandra van 't Padje; Andries Westerveld; Nico J Leschot; Marcel M A M Mannens
Journal:  Eur J Hum Genet       Date:  2009-06-10       Impact factor: 4.246

4.  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

Review 5.  Role of DNA methylation in imprinting disorders: an updated review.

Authors:  Amr Rafat Elhamamsy
Journal:  J Assist Reprod Genet       Date:  2017-03-09       Impact factor: 3.412

6.  No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome.

Authors:  Susanne E Boonen; Johanne M D Hahnemann; Deborah Mackay; Niels Tommerup; Karen Brøndum-Nielsen; Zeynep Tümer; Karen Grønskov
Journal:  Eur J Hum Genet       Date:  2011-08-24       Impact factor: 4.246

7.  The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region.

Authors:  S Rossignol; V Steunou; C Chalas; A Kerjean; M Rigolet; E Viegas-Pequignot; P Jouannet; Y Le Bouc; C Gicquel
Journal:  J Med Genet       Date:  2006-07-06       Impact factor: 6.318

8.  Addition of H19 'loss of methylation testing' for Beckwith-Wiedemann syndrome (BWS) increases the diagnostic yield.

Authors:  Jochen K Lennerz; Robert J Timmerman; Dorothy K Grange; Michael R DeBaun; Andrew P Feinberg; Barbara A Zehnbauer
Journal:  J Mol Diagn       Date:  2010-07-08       Impact factor: 5.568

9.  Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.

Authors:  Jet Bliek; Gaetano Verde; Jonathan Callaway; Saskia M Maas; Agostina De Crescenzo; Angela Sparago; Flavia Cerrato; Silvia Russo; Serena Ferraiuolo; Maria Michela Rinaldi; Rita Fischetto; Faustina Lalatta; Lucio Giordano; Paola Ferrari; Maria Vittoria Cubellis; Lidia Larizza; I Karen Temple; Marcel M A M Mannens; Deborah J G Mackay; Andrea Riccio
Journal:  Eur J Hum Genet       Date:  2008-12-17       Impact factor: 4.246

10.  Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up.

Authors:  Susanne E Boonen; Deborah J G Mackay; Johanne M D Hahnemann; Louise Docherty; Karen Grønskov; Anna Lehmann; Lise G Larsen; Andreas P Haemers; Yves Kockaerts; Lutgarde Dooms; Dung Chí Vu; C T Bich Ngoc; Phuong Bich Nguyen; Olga Kordonouri; Frida Sundberg; Pinar Dayanikli; Vijith Puthi; Carlo Acerini; Ahmed F Massoud; Zeynep Tümer; I Karen Temple
Journal:  Diabetes Care       Date:  2012-11-12       Impact factor: 19.112
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