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  • Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith–Wiedemann syndrome upon maternal transmission

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Epigenetics
Original article
Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith–Wiedemann syndrome upon maternal transmission

Authors

  • Julie Demars Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia INRA, GenPhySE (Génétique, Physiologie et Systèmes d'Elevage), Castanet-Tolosan, France PubMed articlesGoogle scholar articles
  • Mansur Ennuri Shmela Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Abdul Waheed Khan Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia University of Melbourne, Parkville, Australia PubMed articlesGoogle scholar articles
  • Kai Syin Lee Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Salah Azzi APHP, Armand Trousseau Hôpital, Pediatric Endocrinology, INSERM, UMR_S 938, CDR Saint-Antoine, F-75012, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, F-75012, Paris, France PubMed articlesGoogle scholar articles
  • Patrice Dehais INRA, GenPhySE (Génétique, Physiologie et Systèmes d'Elevage), Castanet-Tolosan, France PubMed articlesGoogle scholar articles
  • Irène Netchine APHP, Armand Trousseau Hôpital, Pediatric Endocrinology, INSERM, UMR_S 938, CDR Saint-Antoine, F-75012, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, F-75012, Paris, France PubMed articlesGoogle scholar articles
  • Sylvie Rossignol APHP, Armand Trousseau Hôpital, Pediatric Endocrinology, INSERM, UMR_S 938, CDR Saint-Antoine, F-75012, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, F-75012, Paris, France PubMed articlesGoogle scholar articles
  • Yves Le Bouc APHP, Armand Trousseau Hôpital, Pediatric Endocrinology, INSERM, UMR_S 938, CDR Saint-Antoine, F-75012, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, F-75012, Paris, France PubMed articlesGoogle scholar articles
  • Assam El-Osta Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Victoria, Australia University of Melbourne, Parkville, Australia PubMed articlesGoogle scholar articles
  • Christine Gicquel Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Christine Gicquel, Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, VIC 3004, Australia; christine.gicquel{at}bakeridi.edu.au
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Citation

Demars J, Shmela ME, Khan AW, et al
Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith–Wiedemann syndrome upon maternal transmission
Journal of Medical Genetics 2014;51:502-511.

Publication history

  • Received February 15, 2014
  • Revised June 4, 2014
  • Accepted June 17, 2014
  • First published July 4, 2014.
Online issue publication 
April 27, 2016

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