Epidermolytic hyperkeratosis type PS-1 caused by aberrant splicing of KRT1.

  title={Epidermolytic hyperkeratosis type PS-1 caused by aberrant splicing of KRT1.},
  author={Orna Tal and Reuven Bergman and Joseph Alcalay and Margarita Indelman and Eli Sprecher},
  journal={Clinical and experimental dermatology},
  volume={30 1},
Mutations in the keratin 1 (KRT1) gene underlie epidermolytic hyperkeratosis (EHK). This autosomal dominant disorder is characterized by phenotypic heterogeneity. In the present study, we assessed a 33-year-old individual presenting with severe palmoplantar keratoderma and histopathological findings suggestive of EHK. We analysed genomic DNA extracted from the patient's blood lymphocytes for pathogenic mutations in KRT1. A heterozygous 4-bp deletion was identified in intron 1 of the gene (591… CONTINUE READING
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