Spontaneous Function Correction of Pathogenic Alleles in Inherited Diseases Resulting in Somatic Mosaicism
Published Online: 27 JAN 2006
Copyright © 2001 John Wiley & Sons, Ltd. All rights reserved.
How to Cite
Waisfisz, Q. and Joenje, H. 2006. Spontaneous Function Correction of Pathogenic Alleles in Inherited Diseases Resulting in Somatic Mosaicism. eLS. .
- Published Online: 27 JAN 2006
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.
- 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