ArticleAmerican journal of human genetics2005
Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa.
Article in American journal of human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 77 citations in OpenAlex.
- Hematopoietic (stem) cells-The elixir of life?FEBS letters · 2026Review
- Revertant Mosaicism in Genodermatoses: Natural Gene Therapy Right before Your Eyes.Biomedicines · 2022Review
- Revertant Mosaicism in Epidermolysis Bullosa.Biomedicines · 2022Review
- Challenges in Treating Genodermatoses: New Therapies at the Horizon.Frontiers in pharmacology · 2021Review
- The role of de novo mutations in adult-onset neurodegenerative disorders.Acta neuropathologica · 2019Review
- A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa.PloS one · 2018Article
- Somatic mosaicism with reversion to normality of a mutated transthyretin allele related to a familial amyloidotic polyneuropathy.Human genetics · 2017Article
- Revertant mosaicism in genodermatoses.Cellular and molecular life sciences : CMLS · 2017Review
- Novel and emerging therapies in the treatment of recessive dystrophic epidermolysis bullosa.Intractable & rare diseases research · 2017Review
- RNA-based therapies for genodermatoses.Experimental dermatology · 2017Review
- Expanding the Mutation Spectrum of Ichthyosis with Confetti.The Journal of investigative dermatology · 2016Article
- Suspension survival mediated by PP2A-STAT3-Col XVII determines tumour initiation and metastasis in cancer stem cells.Nature communications · 2016Article
- The genetics of human skin disease.Cold Spring Harbor perspectives in medicine · 2014Review
- Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa.The Journal of investigative dermatology · 2014Article
- Long-term survival of type XVII collagen revertant cells in an animal model of revertant cell therapy.The Journal of investigative dermatology · 2014Article
- A reversion of an IL2RG mutation in combined immunodeficiency providing competitive advantage to the majority of CD8+ T cells.Haematologica · 2013Article
- Genetics and epigenetics of the skin meet deep sequence.The Journal of investigative dermatology · 2012Review
- Revertant mosaicism in skin: natural gene therapy.Trends in molecular medicine · 2011Review
- Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10.Science (New York, N.Y.) · 2010Article
- Revertant somatic mosaicism in the Wiskott-Aldrich syndrome.Immunologic research · 2009Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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 caused by the inherited 4424-5insC mutation, was identified in the 3' splice site of exon 55 in a specimen from the middle finger. Patient 2 showed--besides two distinct gene conversion events in specimens from the arm and hand sites, both of which corrected the 1706delA mutation--a second-site mutation (3782G-->C) in an ankle specimen, which prevented the premature ending of the protein by the 3781C-->T nonsense mutation (R1226X). Thus, both inherited mutations, paternal as well as maternal, reverted at least once by different reversion events in distinct cell clusters in the described patients. The occurrence of multiple correcting mutations within the same patient indicates that in vivo reversion is less unusual than was generally thought. Furthermore, in the male patient, mosaic patterns of type XVII collagen-positive keratinocytes were present in clinically unaffected and affected skin. This latter observation makes it likely that reversion may be overlooked and may happen more often than expected.
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