Abstract
In this issue, Lai-Cheong et al. report a patient with Kindler syndrome who showed revertant mosaicism: a patch of normal-looking skin attributable to a reverse mutation. The molecular basis of the reverted patch appeared to be the deletion of a duplicated cytosine, thus restoring the reading frame of FERMT1 transcripts. This finding further pushes the frontier of revertant mosaicism, a phenomenon of spontaneous gene repair, which can be seen with the naked eye in skin.
Original language | English |
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Pages (from-to) | 514-516 |
Number of pages | 3 |
Journal | Journal of Investigative Dermatology |
Volume | 132 |
Issue number | 3 |
DOIs | |
Publication status | Published - Mar-2012 |
Keywords
- JUNCTIONAL EPIDERMOLYSIS-BULLOSA
- KINDLER SYNDROME
- MUTATIONS
- REVERSION