Methylation of H19 and its imprinted control region (H19 ICR1) in Müllerian aplasia

Fertil Steril. 2011 Jun 30;95(8):2703-6. doi: 10.1016/j.fertnstert.2011.03.019. Epub 2011 Apr 2.

Abstract

Severe hypomethylation of the H19 imprinted control region (ICR1) in two patients with Silver-Russell syndrome (SRS) who have genital malformations has encouraged us to study DNA methylation in a cohort of 83 patients with Müllerian aplasia (MA). Site-specific methylation analyses of H19 ICR1 by quantitative real-time polymerase chain reaction in 80 clinically well-diagnosed Finnish MA patients showed no association between hypomethylation and the MA phenotype, but studies of the H19 locus in 38 patients showed aberrant methylation in 3/16 studied sites.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 46, XX Disorders of Sex Development / diagnosis
  • 46, XX Disorders of Sex Development / genetics
  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • Case-Control Studies
  • Congenital Abnormalities / diagnosis
  • Congenital Abnormalities / genetics
  • CpG Islands
  • DNA Methylation*
  • Female
  • Finland
  • Genetic Predisposition to Disease
  • Genomic Imprinting*
  • Humans
  • Kidney / abnormalities
  • Mullerian Ducts / abnormalities
  • Phenotype
  • Polymerase Chain Reaction / methods
  • RNA, Long Noncoding
  • RNA, Untranslated / genetics*
  • Somites / abnormalities
  • Spine / abnormalities
  • Uterus / abnormalities
  • Vagina / abnormalities

Substances

  • H19 long non-coding RNA
  • RNA, Long Noncoding
  • RNA, Untranslated

Supplementary concepts

  • Mullerian aplasia