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Spontaneous Function Correction of Pathogenic Alleles in Inherited Diseases Resulting in Somatic Mosaicism

  1. Quinten Waisfisz,
  2. Hans Joenje

Published Online: 27 JAN 2006

DOI: 10.1038/npg.els.0006036

eLS

eLS

How to Cite

Waisfisz, Q. and Joenje, H. 2006. Spontaneous Function Correction of Pathogenic Alleles in Inherited Diseases Resulting in Somatic Mosaicism. eLS. .

Author Information

  1. VU University Medical Center, Amsterdam, The Netherlands

Publication History

  1. Published Online: 27 JAN 2006

Abstract

Inherited mutations can cause disease, but in monogenic disease correction of just one pathogenic mutation can lead to somatic mosaicism and revert the phenotype, which may ameliorate symptoms. The diseases for which this ‘natural gene therapy’ has been described include Fanconi anemia and Wiskott–Aldrich syndrome, among others.

Keywords:

  • mosaicism;
  • revertant;
  • recombination;
  • mutation;
  • monogenic disorder;
  • gene conversion;
  • Bloom syndrome;
  • Fanconi anemia;
  • epidermolysis bullosa;
  • tyrosinemia type I;
  • adenosine deaminase deficiency;
  • X-linked SCID;
  • Wiskott–Aldrich syndrome;
  • Lesch–Nyhan syndrome