ArticleThe Journal of clinical investigation2007
Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3.
Article in The Journal of clinical investigation, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 103 citations in OpenAlex.
- Advances in Treatments for Epidermolysis Bullosa (EB): Emphasis on Stem Cell-Based Therapy.Stem cell reviews and reports · 2024Review
- Stairways to Advanced Therapies for Epidermolysis Bullosa.Cold Spring Harbor perspectives in biology · 2023Review
- Revertant Mosaicism in Genodermatoses: Natural Gene Therapy Right before Your Eyes.Biomedicines · 2022Review
- Revertant Mosaicism in Epidermolysis Bullosa.Biomedicines · 2022Review
- Clinical Perspectives of Gene-Targeted Therapies for Epidermolysis Bullosa.Dermatology and therapy · 2021Review
- Laminin Polymerization and Inherited Disease: Lessons From Genetics.Frontiers in genetics · 2021Review
- Reversion Mosaicism in Primary Immunodeficiency Diseases.Frontiers in immunology · 2021Review
- A six-attribute classification of genetic mosaicism.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Review
- Molecular Therapeutics in Development for Epidermolysis Bullosa: Update 2020.Molecular diagnosis & therapy · 2020Review
- 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
- Revertant mosaicism in genodermatoses.Cellular and molecular life sciences : CMLS · 2017Review
- Mosaicism in health and disease - clones picking up speed.Nature reviews. Genetics · 2017Review
- Gene Therapy for Epidermolysis Bullosa: Sticky Business.Molecular therapy : the journal of the American Society of Gene Therapy · 2016Article
- Expanding the Mutation Spectrum of Ichthyosis with Confetti.The Journal of investigative dermatology · 2016Article
- A new mouse model of junctional epidermolysis bullosa: the LAMB3 628G>A knockin mouse.The Journal of investigative dermatology · 2015Article
- Somatic mosaicism in the human genome.Genes · 2014Review
- Human COL7A1-corrected induced pluripotent stem cells for the treatment of recessive dystrophic epidermolysis bullosa.Science translational medicine · 2014Article
- Induced pluripotent stem cells in dermatology: potentials, advances, and limitations.Cold Spring Harbor perspectives in medicine · 2014Review
- The genetics of human skin disease.Cold Spring Harbor perspectives in medicine · 2014Review
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Revertant mosaicism due to in vivo reversion of an inherited mutation has been described in the genetic skin disease epidermolysis bullosa (EB) for the genes KRT14 and COL17A1. Here we demonstrate the presence of multiple second-site mutations, all correcting the germline mutation LAMB3:c.628G-->A;p.E210K, in 2 unrelated non-Herlitz junctional EB patients with revertant mosaicism. Both probands had a severe reduction in laminin-332 expression in their affected skin. Remarkably, the skin on the lower leg of patient 078-01 (c.628G-->A/c.1903C-->T) became progressively clinically healthy, with normal expression of laminin-332 on previously affected skin. In the other proband, 029-01 (c.628G-->A/c.628G-->A), the revertant patches were located at his arms, shoulder, and chest. DNA analysis showed different second-site mutations in revertant keratinocytes of distinct biopsy specimens (c.565-3T-->C, c.596G-->C;p.G199A, c.619A-->C;p.K207Q, c.628+42G-->A, and c.629-1G-->A), implying that there is not a single preferred mechanism for the correction of a specific mutation. Our data offer prospects for EB treatment in particular cases, since revertant mosaicism seems to occur at a higher frequency than expected. This opens the possibility of applying revertant cell therapy in mosaic EB of the LAMB3 gene by using autologous naturally corrected keratinocytes, thereby bypassing the recombinant gene correction phase.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.