Journal
EXPERIMENTAL DERMATOLOGY
Volume 12, Issue 4, Pages 523-527Publisher
BLACKWELL MUNKSGAARD
DOI: 10.1034/j.1600-0625.2003.00017.x
Keywords
desmoglein; cadherin; desmosome; striate keratoderma; mutation
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Funding
- NIAMS NIH HHS [P30-AR44535] Funding Source: Medline
- PHS HHS [R01 44924] Funding Source: Medline
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Striate keratodermas (PPKS) (OMIM 148700) are a rare group of autosomal dominant genodermatoses characterized by palmoplantar keratoderma typified by streaking hyperkeratosis along each finger and extending onto the palm of the hand. We report a four-generation kindred originating from Iran-Syria in which three members were affected with PPKS. Clinically, these patients present with hyperkeratotic palms and plantar plaques. Direct DNA sequencing analysis revealed a heterozygous C-to-A transversion at nt 395 of the DSG1 gene. This mutation converted a serine residue (T (C) under barA) in exon 5 to a nonsense mutation (T (A) under barA) designated S132X. The mutation identified in this study is a novel mutation in the DSG1 gene and extends the body of evidence implicating the desmoglein gene family in the pathogenesis of human skin disorders.
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