title: Identification of a novel cathepsin C mutation (p.W185X) in a Brazilian kindred with Papillon-Lefèvre syndrome.
abstract: Papillon-Lefèvre syndrome (PLS) is an autosomal recessive palmoplantar keratoderma caused by cathepsin C (CTSC) gene mutations. This study reports CTSC mutational and enzyme analyses in a consanguineous Brazilian family with PLS, representing the first enzymatic analysis of a Brazilian kinship with PLS. This family segregates a novel PLS-related mutation, p.W185X, that is associated with a complete loss of enzymatic activity.
authors.affiliation: Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, 572A Scaife Hall, 3550 Terrace St., PA 15261, USA. harts@msx.dept-med.pitt.edu
authors.forename: P S
authors.initials: PS
authors.lastname: Hart
authors.forename: D
authors.initials: D
authors.lastname: Pallos
authors.forename: Y
authors.initials: Y
authors.lastname: Zhang
authors.forename: J
authors.initials: J
authors.lastname: Sanchez
authors.forename: I
authors.initials: I
authors.lastname: Kavamura
authors.forename: D
authors.initials: D
authors.lastname: Brunoni
authors.forename: T C
authors.initials: TC
authors.lastname: Hart
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D000818:Animals; D001483:Base Sequence; D001938:Brazil; D020789:Cathepsin C / Q000235:genetics*; D003241:Consanguinity; D017124:Conserved Sequence; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D010214:Papillon-Lefevre Disease / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D017386:Sequence Homology, Amino Acid; D013045:Species Specificity
chemical_list: D004247:DNA; D020789:Cathepsin C