ArticleThe British journal of dermatology2017
Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening.
Article in The British journal of dermatology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 34 citations in OpenAlex.
- Host genetic variation in desmoglein-1 is associated with susceptibility to staphylococcal scalded skin syndrome.European journal of pediatrics · 2026Article
- Ectodermal dysplasias and isolated ectodermal anomalies: expanding the clinical and molecular spectrum in a cohort of 36 patients.European journal of pediatrics · 2025Article
- Striate palmoplantar keratoderma: a novel DSG1 mutation, combined with an LDLR mutation.Genes & genomics · 2025Article
- A novel FAM83G variant from palmoplantar keratoderma patient disrupts WNT signalling via loss of FAM83G-CK1α interaction.Open biology · 2024Article
- Hereditary epidermolytic palmoplantar keratosis due to a novel desmoglein-1 mutation: A case report.Clinical case reports · 2024Article
- Structural and functional foot disorders in patients with genodermatoses: a single-centre, retrospective chart review.Orphanet journal of rare diseases · 2022Article
- Distinctions in the Management, Patient Impact, and Clinical Profiles of Pachyonychia Congenita Subtypes.Skin appendage disorders · 2021Article
- Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families.BMC medical genetics · 2019Article
- The desmosome is a mesoscale lipid raft-like membrane domain.Molecular biology of the cell · 2019Article
- Striate palmoplantar keratoderma resulting from a missense mutation in DSG1.The British journal of dermatology · 2018Article
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Authors and funding
10 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The inherited palmoplantar keratodermas (PPKs) are a heterogeneous group of genodermatoses, characterized by thickening of the epidermis of the palms and soles. No classification system satisfactorily unites clinical presentation, pathology and molecular pathogenesis. There are four patterns of hyperkeratosis - striate, focal, diffuse and punctate. Mutations in the desmoglein 1 gene (DSG1), a transmembrane glycoprotein, have been reported primarily in striate, but also in focal and diffuse PPKs. We report seven unrelated pedigrees with dominantly inherited PPK owing to mutations in the DSG1 gene, with marked phenotypic variation. Genomic DNA from each family was isolated, and individual exons amplified by polymerase chain reaction. Sanger sequencing was employed to identify mutations. Mutation analysis identified novel mutations in five families (p.Tyr126Hisfs*2, p.Ser521Tyrfs*2, p.Trp3*, p.Asp591Phefs*9 and p.Met249Ilefs*6) with striate palmar involvement and varying focal or diffuse plantar disease, and the recurrent mutation c.76C>T, p.Arg26*, in two families with variable PPK patterns. We report one recurrent and five novel DSG1 mutations, causing varying patterns of PPK, highlighting the clinical heterogeneity arising from mutations in this gene.
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