Article Text

Download PDFPDF
In vivo reversion to normal of inherited mutations in humans
  1. R Hirschhorn
  1. Correspondence to:
 Preofessor Hirschhorn
 Medicine, Cell Biology & Pediatrics, New York University School of Medicine, 550 First Ave CD612, New York NY 10016, USA;


There are increasing reports of multiple different types of somatic mosaicism detected in patients with inherited and non-inherited disorders. The characteristics of several of the major types of mosaicism will be outlined, and contrasted with somatic mosaicism, which is the focus of this article. This review examines examples of somatic mosaicism due to differences in DNA sequence arising from in vivo site specific reversion to normal of inherited mutations in humans. While several known mechanisms of reversion are evident in a number of these examples, they are not in some others. The possible significance of the role of selection, particularly in view of recent results of gene therapy, is discussed.

  • compensatory reversion
  • gene conversion
  • intragenic recombination
  • site-specific reversion
  • somatic mosaicism

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.