Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa.

ABSTRACT: Revertant mosaicism by somatic reversion of inherited mutations has been described for a number of genetic diseases. Several mechanisms can underlie this reversion process, such as gene conversion, crossing-over, true back mutation, and second-site mutation. Here, we report the occurrence of multiple corrections in two unrelated probands with revertant mosaicism of non-Herlitz junctional epidermolysis bullosa, an autosomal recessive genodermatosis due to mutations in the COL17A1 gene. Immunofluorescence microscopy and laser dissection microscopy, followed by DNA and RNA analysis, were performed on skin biopsy specimens. In patient 1, a true back mutation, 3781T-->C, was identified in the specimen from the arm, and a second-site mutation, 4463-1G-->A, which compensated for the frameshift ca

SUBMITTER: Pasmooij AM 

PROVIDER: S-EPMC1271383 | biostudies-literature | 2005 Nov

REPOSITORIES: biostudies-literature