title: Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome.
abstract: 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.
authors.affiliation: Department of Dermatology, Trousseau University Hospital, 37044 Tours Cedex, France. martin@med.univ-tours.fr
authors.forename: L
authors.initials: L
authors.lastname: Martin
authors.forename: A
authors.initials: A
authors.lastname: Toutain
authors.forename: C
authors.initials: C
authors.lastname: Guillen
authors.forename: M
authors.initials: M
authors.lastname: Haftek
authors.forename: M C
authors.initials: MC
authors.lastname: Machet
authors.forename: C
authors.initials: C
authors.lastname: Toledano
authors.forename: B
authors.initials: B
authors.lastname: Arbeille
authors.forename: G
authors.initials: G
authors.lastname: Lorette
authors.forename: A
authors.initials: A
authors.lastname: Rötig
authors.forename: L
authors.initials: L
authors.lastname: Vaillant
mesh_terms: D000293:Adolescent; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics* / Q000473:pathology; D008297:Male; D010375:Pedigree; D017354:Point Mutation
chemical_list: D004272:DNA, Mitochondrial