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Review
. 2017 Jun;74(12):2229-2238.
doi: 10.1007/s00018-017-2468-2. Epub 2017 Feb 6.

Revertant mosaicism in genodermatoses

Young H Lim  1   2   3 , Jonathan M Fisher  1 , Keith A Choate  4   5   6
Affiliations
Review

Revertant mosaicism in genodermatoses

Young H Lim et al. Cell Mol Life Sci. 2017 Jun.

Abstract

Inherited monogenic skin disorders include blistering disorders, inflammatory disorders, and disorders of differentiation or development. In most cases, the skin is broadly involved throughout the affected individual's lifetime, but rarely, appearance of normal skin clones has been described. In these cases of revertant mosaicism, cells undergo spontaneous correction to ameliorate the effects of genetic mutation. While targeted reversion of genetic mutation would have tremendous therapeutic value, the mechanisms of reversion in the skin are poorly understood. In this review, we provide an overview of genodermatoses that demonstrate widespread reversion and their corrective mechanisms, as well as the current research aimed to understand this "natural gene therapy".

Keywords: Confetti; DNA repair; Epidermolysis bullosa; Genodermatoses; Reversion; Revertant mosaicism.

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