Intracytoplasmic sperm injection may increase the risk of imprinting defects

Am J Hum Genet. 2002 Jul;71(1):162-4. doi: 10.1086/341096. Epub 2002 May 8.


In germ cells and the early embryo, the mammalian genome undergoes widespread epigenetic reprogramming. Animal studies suggest that this process is vulnerable to external factors. We report two children who were conceived by intracytoplasmic sperm injection (ICSI) and who developed Angelman syndrome. Molecular studies, including DNA methylation and microsatellite and quantitative Southern blot analysis, revealed a sporadic imprinting defect in both patients. We discuss the possibility that ICSI may interfere with the establishment of the maternal imprint in the oocyte or pre-embryo.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Angelman Syndrome / etiology*
  • Angelman Syndrome / genetics*
  • Animals
  • Child, Preschool
  • DNA Methylation
  • Female
  • Genomic Imprinting*
  • Humans
  • Infertility, Male / genetics
  • Infertility, Male / therapy
  • Male
  • Pregnancy
  • Risk Factors
  • Sperm Injections, Intracytoplasmic / adverse effects*

Associated data

  • OMIM/105830
  • OMIM/182279
  • OMIM/601623