LIT1 and H19 methylation defects in isolated hemihyperplasia

Am J Med Genet A. 2005 Apr 15;134A(2):129-31. doi: 10.1002/ajmg.a.30578.

Abstract

We performed LIT1 and H19 methylation studies on 27 children with isolated hemihyperplasia (IH). Eight children (29.6%) had a defect in methylation of one or both of these alleles, supporting our hypothesis that these epigenetic changes can result in a phenotype distinct from typical Beckwith-Wiedemann syndrome.

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Abnormalities, Multiple / physiopathology
  • Adolescent
  • Beckwith-Wiedemann Syndrome / genetics
  • Beckwith-Wiedemann Syndrome / pathology
  • Beckwith-Wiedemann Syndrome / physiopathology
  • Body Height / genetics
  • Body Weight / genetics
  • Child
  • Child, Preschool
  • DNA Methylation*
  • Female
  • Humans
  • Infant
  • Male
  • Membrane Proteins / genetics*
  • Potassium Channels, Voltage-Gated / genetics*
  • RNA, Long Noncoding
  • RNA, Untranslated / genetics*
  • Uniparental Disomy

Substances

  • H19 long non-coding RNA
  • KCNQ1OT1 protein, human
  • Membrane Proteins
  • Potassium Channels, Voltage-Gated
  • RNA, Long Noncoding
  • RNA, Untranslated