Realm of revertant mosaicism expanding.
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.
Department of Dermatology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. m.f.jonkman@umcg.nl
Marcel F
MF
Jonkman
Anna M G
AM
Pasmooij
D001768:Blister / Q000235:genetics*; D004820:Epidermolysis Bullosa / Q000235:genetics*; D006801:Humans; D008297:Male; D009030:Mosaicism; D010510:Periodontal Diseases / Q000235:genetics*; D010787:Photosensitivity Disorders / Q000235:genetics*