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  • Title: Novel mutations in DSG1 causing striate palmoplantar keratoderma.
    Author: Hershkovitz D, Lugassy J, Indelman M, Bergman R, Sprecher E.
    Journal: Clin Exp Dermatol; 2009 Mar; 34(2):224-8. PubMed ID: 19018793.
    Abstract:
    BACKGROUND: Striate palmoplantar keratoderma (SPPK) has been shown to be caused by mutations in at least three genes: DSG1, DSP and KRT1. METHODS: Three families with nine affected members were assessed using a candidate gene-based screening approach. RESULTS: In all three families, new heterozygous mutations were found in DSG1. CONCLUSION: Direct sequencing of cDNA derived from affected skin in one patient failed to reveal a pathogenic mutation, suggesting that SPPK results from haploinsufficiency for DSG1.
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