ArticleThe Journal of clinical investigation2015
Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti.
Article in The Journal of clinical investigation, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 69 citations in OpenAlex.
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- Genetic modulation of lncPSMB1 confers non-syndromic cleft lip with or without cleft palate susceptibility by promoting cell apoptosis.Communications biology · 2025Article
- Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis.Pediatric investigation · 2023Article
- Revertant Mosaicism in Genodermatoses: Natural Gene Therapy Right before Your Eyes.Biomedicines · 2022Review
- New developments in the molecular treatment of ichthyosis: review of the literature.Orphanet journal of rare diseases · 2022Review
- Bullous diseases caused byPostepy dermatologii i alergologii · 2021Article
- Epigenetic and metabolic regulation of epidermal homeostasis.Experimental dermatology · 2021Review
- Clinical significance and mechanisms associated with segmental UPD.Molecular cytogenetics · 2021Article
- Altered replication stress response due to CARD14 mutations promotes recombination-induced revertant mosaicism.American journal of human genetics · 2021Article
- A six-attribute classification of genetic mosaicism.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Review
- iTRAQ‑based proteomic analysis reveals potential regulatory networks in dust mite‑related asthma treated with subcutaneous allergen immunotherapy.Molecular medicine reports · 2020Article
- Recurrent KRT10 Variant in Ichthyosis with Confetti.Acta dermato-venereologica · 2020Article
- Arginine- but not alanine-rich carboxy-termini trigger nuclear translocation of mutant keratin 10 in ichthyosis with confetti.Journal of cellular and molecular medicine · 2019Article
- Second-Hit Somatic Mutations in Mevalonate Pathway Genes Underlie Porokeratosis.The Journal of investigative dermatology · 2019Article
- Insights into genetics, human biology and disease gleaned from family based genomic studies.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Review
- Somatic recombination underlies frequent revertant mosaicism in loricrin keratoderma.Life science alliance · 2019Article
- Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)-Deficient Canines.The American journal of pathology · 2018Article
- Chromosomal inversions as a hidden disease-modifying factor for somatic recombination phenotypes.JCI insight · 2018Article
- Article
- A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa.PloS one · 2018Article
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 1 country.
Funding
Abstract
Widespread reversion of genetic disease is rare; however, such events are particularly evident in some skin disorders in which normal clones develop on a background of affected skin. We previously demonstrated that mutations in keratin 10 (KRT10) cause ichthyosis with confetti (IWC), a severe dominant disorder that is characterized by progressive development of hundreds of normal skin spots via revertant mosaicism. Here, we report on a clinical and histological IWC subtype in which affected subjects have red, scaly skin at birth, experience worsening palmoplantar keratoderma in childhood, and develop hundreds of normal skin spots, beginning at around 20 years of age, that increase in size and number over time. We identified a causal de novo mutation in keratin 1 (KRT1). Similar to IWC-causing KRT10 mutations, this mutation in KRT1 resulted in a C-terminal frameshift, replacing 22 C-terminal amino acids with an alternate 30-residue peptide. Mutant KRT1 caused partial collapse of the cytoplasmic intermediate filament network and mislocalized to the nucleus. As with KRT10 mutations causing IWC, reversion of KRT1 mutations occurred via mitotic recombination. Because reversion is not observed with other disease-causing keratin mutations, the results of this study implicate KRT1 and KRT10 C-terminal frameshift mutations in the high frequency of revertant mosaicism in IWC.
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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.