ArticleThe Journal of investigative dermatology2019
Mutations in PERP Cause Dominant and Recessive Keratoderma.
Article in The Journal of investigative dermatology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 29 citations in OpenAlex.
- A recurrent de novo damaging variant inProceedings of the National Academy of Sciences of the United States of America · 2025Article
- Autosomal dominant SLURP1 variants cause palmoplantar keratoderma and progressive symmetric erythrokeratoderma.The British journal of dermatology · 2025Article
- Erlotinib therapy for Olmsted syndrome with p.L655P missense mutation in theFrontiers in medicine · 2025Article
- The genetic and molecular basis of a connexin-linked skin disease.The Biochemical journal · 2024Review
- NovelJAAD case reports · 2024Article
- Pathogenesis and management ofFrontiers in genetics · 2024Review
- Dermoscopic Patterns of Genodermatoses: A Comprehensive Analysis.Biomedicines · 2023Review
- Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in theGenes · 2023Article
- TRPV3 Ion Channel: From Gene to Pharmacology.International journal of molecular sciences · 2023Review
- Interrogation of Carboxy-Terminus LocalizedInternational journal of molecular sciences · 2022Article
- Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis.Acta dermato-venereologica · 2020Review
- Proximal femoral head transcriptome reveals novel candidate genes related to epiphysiolysis in broiler chickens.BMC genomics · 2019Article
Corrections and comments
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Authors and funding
18 authors at 10 institutions in 4 countries.
Funding
Abstract
Investigation of genetic determinants of Mendelian skin disorders has substantially advanced understanding of epidermal biology. Here we show that mutations in PERP, encoding a crucial component of desmosomes, cause both dominant and recessive human keratoderma. Heterozygosity for a C-terminal truncation, which produces a protein that appears to be unstably incorporated into desmosomes, causes Olmsted syndrome with severe periorificial and palmoplantar keratoderma in multiple unrelated kindreds. Homozygosity for an N-terminal truncation ablates expression and causes widespread erythrokeratoderma, with expansion of epidermal differentiation markers. Both exhibit epidermal hyperproliferation, immature desmosomes lacking a dense midline observed via electron microscopy, and impaired intercellular adhesion upon mechanical stress. Localization of other desmosomal components appears normal, which is in contrast to other conditions caused by mutations in genes encoding desmosomal proteins. These discoveries highlight the essential role of PERP in human desmosomes and epidermal homeostasis and further expand the heterogeneous spectrum of inherited keratinization disorders.
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Registered trials
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.