title: Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma.
abstract: Punctate palmoplantar keratoderma type 1 (PPPK1) is a rare autosomal dominant inherited skin disease, characterized by multiple hyperkeratotic lesions on the palms and soles. The causative gene for PPPK1 has been identified as AAGAB, which encodes α- and γ-adaptin-binding protein p34. We describe the clinical features in three unrelated families with PPPK1, and report three recurrent causative mutations in AAGAB.
authors.affiliation: Department of Dermatology, Worthing Hospital, Western Hospitals NHS Trust, Worthing, West Sussex, UK.
authors.forename: N
authors.initials: N
authors.lastname: Dinani
authors.affiliation: Department of Dermatology, Worthing Hospital, Western Hospitals NHS Trust, Worthing, West Sussex, UK.
authors.forename: M
authors.initials: M
authors.lastname: Ali
authors.affiliation: St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, UK.
authors.forename: L
authors.initials: L
authors.lastname: Liu
authors.affiliation: Genetic Skin Disease Group, King's College London (Guy's Campus), London, UK.
authors.forename: J
authors.initials: J
authors.lastname: McGrath
authors.affiliation: St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, UK.
authors.forename: J
authors.initials: J
authors.lastname: Mellerio
mesh_terms: D033942:Adaptor Proteins, Vesicular Transport / Q000235:genetics*; D000328:Adult; D005260:Female; D005533:Foot Dermatoses / Q000235:genetics*; D006229:Hand Dermatoses / Q000235:genetics*; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D009154:Mutation; D010375:Pedigree
chemical_list: C579464:AAGAB protein, human; D033942:Adaptor Proteins, Vesicular Transport