832 Mechanisms of spontaneous genetic reversion in ichthyosis with confetti

Genetic reversion to a wild type state is a vanishingly rare event in human disease. However, in ichthyosis with confetti (IWC), a severe skin disorder due to dominant mutations affecting the tail domains of KRT10 and KRT1, patients develop hundreds to thousands of revertant macules of normal skin, each arising from independent events of copy-neutral loss-of-heterozygosity (CN-LOH) as result of homology-based mitotic recombination. Further, these revertant patches grow in size and number over time, suggesting that revertant basal keratinocytes acquire a selective advantage over their mutant neighbors.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research