Novel mutations in DSG1 causing striate palmoplantar keratoderma.
D Hershkovitz, J Lugassy, M Indelman… - Clinical & …, 2009 - search.ebscohost.com
D Hershkovitz, J Lugassy, M Indelman, R Bergman, E Sprecher
Clinical & Experimental Dermatology, 2009•search.ebscohost.comBackground. 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.
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.
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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