Journal
BRITISH JOURNAL OF DERMATOLOGY
Volume 143, Issue 4, Pages 876-883Publisher
WILEY
DOI: 10.1046/j.1365-2133.2000.03797.x
Keywords
A7445G mtDNA mutation; mitochondrial genome; palmoplantar keratoderma; sensorineural deafness
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We report a French pedigree with members having an inherited combination of non-epidermolytic palmoplantar keratoderma (NEPPK) and sensorineural deafness. The penetrance of both features was incomplete. Additional ectodermal defects were absent. The expression of numerous epidermal proteins (keratins, fillagrin, cornified envelope proteins, intercellular junction proteins including connexin 26, and loricrin) defined with immunolabelling was normal in the proband. The combination was shown to be associated with the A7445G point mutation in the mitochondrial genome (mtDNA). This mutation is responsible for a subtype of NEPPK which is so far the only mtDNA mutation-associated keratoderma.
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