Mutations in the laminin beta 3 (LAMB3) gene cause the blistering skin disease epidermolysis bullosa (EB). Scientists describe two unrelated patients with junctional EB who underwent revertant mosaicism, a spontaneously occurring process in which mutations at second sites within the LAMB3 gene in skin cells known as keratinocytes were capable of correcting the inherited mutation, restoring LAMB3 protein expression to normal, and triggered areas of previously affected skin to return to a clinically healthy state.
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