title: Revertant mosaicism in skin: natural gene therapy.
abstract: Revertant mosaicism is a naturally occurring phenomenon involving spontaneous correction of a pathogenic mutation in a somatic cell. Recent studies suggest that it is not a rare event and that it could be clinically relevant to phenotypic expression and patient treatment. Indeed, revertant cell therapy represents a potential 'natural gene therapy' because in vivo reversion obviates the need for further genetic correction. Revertant mosaicism has been observed in several inherited conditions, including epidermolysis bullosa, a heterogeneous group of blistering skin disorders. These diseases provide a useful model for studying revertant mosaicism because of the visual and accessible nature of skin. This overview highlights the latest developments in revertant mosaicism and the translational implications germane to heritable skin disorders.
authors.affiliation: St John's Institute of Dermatology, Division of Genetics and Molecular Medicine, Floor 9 Tower Wing, King's College London (Guy's Campus), London SE1 9RT, United Kingdom. jouni.uitto@jefferson.edu
authors.forename: Joey E
authors.initials: JE
authors.lastname: Lai-Cheong
authors.forename: John A
authors.initials: JA
authors.lastname: McGrath
authors.forename: Jouni
authors.initials: J
authors.lastname: Uitto
mesh_terms: D000818:Animals; D015316:Genetic Therapy; D006801:Humans; D009030:Mosaicism; D012871:Skin Diseases / Q000235:genetics* / Q000628:therapy*