In vivo reversion to normal of inherited mutations in humans
Open Access
- 1 October 2003
- journal article
- review article
- Published by BMJ in Journal of Medical Genetics
- Vol. 40 (10) , 721-728
- https://doi.org/10.1136/jmg.40.10.721
Abstract
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.Keywords
This publication has 48 references indexed in Scilit:
- Immune reconstitution in ADA-SCID after PBL gene therapy and discontinuation of enzyme replacementNature Medicine, 2002
- Sustained Correction of X-Linked Severe Combined Immunodeficiency by ex Vivo Gene TherapyNew England Journal of Medicine, 2002
- Partial Revertant Mosaicism of Keratin 14 in a Patient with Recessive Epidermolysis Bullosa Simplex11Part of this paper was presented at the 2nd Scientific Meeting of the Dutch Society for Experimental Dermatology, Lunteren, the Netherlands, February 8, 2001 and on the 30th Annual Meeting of the European Society for Dermatological Research, Berlin, September 22, 2000.Journal of Investigative Dermatology, 2002
- Adenosine deaminase deficiency with mosaicism for a “second-site suppressor” of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapyBlood, 2002
- Skewed X Inactivation in X-Linked DisordersSeminars in Reproductive Medicine, 2001
- Somatic mosaicism in Wiskott–Aldrich syndrome suggestsin vivoreversion by a DNA slippage mechanismProceedings of the National Academy of Sciences, 2001
- T-cell lines from 2 patients with adenosine deaminase (ADA) deficiency showed the restoration of ADA activity resulted from the reversion of an inherited mutationBlood, 2001
- Tyrosinemia: A ReviewPediatric and Developmental Pathology, 2001
- Spontaneous In Vivo Reversion of an Inherited Mutation in the Wiskott-Aldrich SyndromeThe Journal of Immunology, 2001
- Back mutation can produce phenotype reversion in Bloom syndrome somatic cellsHuman Genetics, 2001