title: Mal de Meleda in Indonesia: Mutations in the SLURP1 gene appear to be ubiquitous.
abstract: Mal de Meleda is a rare autosomal recessive genodermatosis caused by mutations in the ARS B (SLURP1) gene, with possible founder effects in the Mediterranean and Adriatic regions. We report an affected individual from Indonesia without known consanguinity in the family, suggesting that SLURP1 gene mutations are ubiquitous. Recognition of the phenotype can be confirmed by genetic testing, thus facilitating genetic counselling.
authors.affiliation: Genetic Medicine, Royal Melbourne Hospital, Melbourne, Victoria, Australia.
authors.forename: Jessica A
authors.initials: JA
authors.lastname: Taylor
authors.affiliation: Genetic Medicine, Royal Melbourne Hospital, Melbourne, Victoria, Australia.|Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, Section of Medical Genetics, University of Genoa, Genoa, Italy.
authors.forename: Davide
authors.initials: D
authors.lastname: Bondavalli
authors.affiliation: Genetic Medicine, Royal Melbourne Hospital, Melbourne, Victoria, Australia.
authors.forename: Mastura
authors.initials: M
authors.lastname: Monif
authors.affiliation: St Vincent's Hospital, Melbourne, Victoria, Australia.
authors.forename: Lee Mei
authors.initials: LM
authors.lastname: Yap
authors.affiliation: Genetic Medicine, Royal Melbourne Hospital, Melbourne, Victoria, Australia.|Department of Medicine, Royal Melbourne Hospital, University of Melbourne, Melbourne, Victoria, Australia.
authors.forename: Ingrid
authors.initials: I
authors.lastname: Winship
mesh_terms: D000328:Adult; D000950:Antigens, Ly / Q000235:genetics*; D005260:Female; D006801:Humans; D007214:Indonesia; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D014568:Urokinase-Type Plasminogen Activator / Q000235:genetics*
chemical_list: D000950:Antigens, Ly; C048963:SLURP1 protein, human; D014568:Urokinase-Type Plasminogen Activator
keywords: ARS component B; Mal de Meleda; SLURP1; gene; genodermatosis; palmoplantar keratosis