Realm of Revertant Mosaicism Expanding

Marcel F. Jonkman*, Anna M. G. Pasmooij

*Corresponding author for this work

Research output: Contribution to journalEditorialAcademicpeer-review

14 Citations (Scopus)

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 languageEnglish
Pages (from-to)514-516
Number of pages3
JournalJournal of Investigative Dermatology
Volume132
Issue number3
DOIs
Publication statusPublished - Mar-2012

Keywords

  • JUNCTIONAL EPIDERMOLYSIS-BULLOSA
  • KINDLER SYNDROME
  • MUTATIONS
  • REVERSION

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