title: Identification of recurrent mutations in the ARS (component B) gene encoding SLURP-1 in two families with mal de Meleda.
abstract: Mal de Meleda is a rare, autosomal recessive form of palmoplantar keratoderma. The disease has been mapped to chromosome 8qter, and in a recent study mutations in the ARS gene have been identified in families with this disorder. Here, we report two unrelated families with mal de Meleda, in which two different homozygous mutations in the ARS gene were identified. These findings support the notion that mutations in the ARS gene are pathogenic in mal de Meleda.
authors.affiliation: Department of Dermatology, Columbia University, New York, NY 10032, USA.
authors.forename: Kimberley Morine
authors.initials: KM
authors.lastname: Ward
authors.forename: Ozlem
authors.initials: O
authors.lastname: Yerebakan
authors.forename: Ertan
authors.initials: E
authors.lastname: Yilmaz
authors.forename: Jülide Tok
authors.initials: JT
authors.lastname: Celebi
mesh_terms: D000328:Adult; D000950:Antigens, Ly / Q000235:genetics*; D005260:Female; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D009154:Mutation; D012008:Recurrence; D014568:Urokinase-Type Plasminogen Activator / Q000235:genetics*
chemical_list: D000950:Antigens, Ly; C048963:SLURP1 protein, human; D014568:Urokinase-Type Plasminogen Activator