LIT1 and H19 methylation defects in isolated hemihyperplasia

Rick A. Martin, Dorothy K. Grange, Babara Zehnbauer, Michael R. DeBaun

Research output: Contribution to journalArticlepeer-review

31 Scopus citations

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.

Original languageEnglish
Pages (from-to)129-131
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume134 A
Issue number2
DOIs
StatePublished - Apr 15 2005

Keywords

  • BWS
  • Beckwith-Wiedemann syndrome
  • H19
  • Hemihyperplasia
  • Imprinting
  • LIT1
  • Methylation

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