Cutaneous mosaicism: right before our eyes

Published on May 1, 2007in Journal of Clinical Investigation12.282
· DOI :10.1172/JCI32111
Jorge Frank18
Estimated H-index: 18
Rudolf Happle55
Estimated H-index: 55
Autosomal recessive cutaneous disorders, including various types of epidermolysis bullosa (EB), usually manifest shortly after birth. The clinical course of these diseases is often characterized by severe complications, limited therapeutic options, and a poor prognosis. A study by Pasmooij et al. reported in this issue of the JCI unravels the molecular mechanisms by which germline mutations in non-Herlitz junctional EB can be corrected in vivo by multiple spontaneously occurring somatic mutational events, a phenomenon known as revertant mosaicism (see the related article beginning on page 1240). These insights open new avenues of thinking for the design of future gene therapy strategies for skin diseases.
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