ArticleJournal of dermatological science2009
Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma.
Article in Journal of dermatological science, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 25 citations in OpenAlex.
- Striate palmoplantar keratoderma: a novel DSG1 mutation, combined with an LDLR mutation.Genes & genomics · 2025Article
- Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families.BMC medical genetics · 2019Article
- Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening.The British journal of dermatology · 2017Article
- A spontaneous deletion within the desmoglein 3 extracellular domain of mice results in hypomorphic protein expression, immunodeficiency, and a wasting disease phenotype.The American journal of pathology · 2015Article
- Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.F1000Research · 2014Review
- Desmoglein-1/Erbin interaction suppresses ERK activation to support epidermal differentiation.The Journal of clinical investigation · 2013Article
- Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families.Human genetics · 2011Article
- Cadherins as targets for genetic diseases.Cold Spring Harbor perspectives in biology · 2010Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
backgroundStriate palmoplantar keratoderma (SPPK; OMIM #148700) is a rare autosomal dominant genodermatosis characterized by linear hyperkeratosis on the digits and hyperkeratosis on the palms and soles. SPPK is known to be caused by heterozygous mutations in either the desmoglein 1 (DSG1), desmoplakin (DSP), or keratin 1 (KRT1) genes.
objectiveTo define the molecular basis of SPPK in five Pakistani families showing a clear autosomal dominant inheritance pattern of SPPK.
methodsBased on previous reports of DSG1 mutations in SPPK, we performed direct sequencing of the DSG1 gene of all five families.
resultsMutation analysis resulted in the identification of one recurrent mutation (p.R26X) and four novel mutations (c.Ivs4-2A>G, c.515C>T, c.Ivs9-3C>G, and c.1399delA) in the DSG1 gene. Each mutation is predicted to cause haploinsufficiency of DSG1 protein.
conclusionThe results of our study further underscore the significance of the desmoglein gene family in diseases of epidermal integrity.
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