title: Demonstration of altered splicing with the IVS3-1G --> a mutation of cathepsin C.
abstract: Papillon-Lefèvre syndrome is an autosomal recessive palmoplantar keratoderma caused by cathepsin C gene mutations. We present the second family segregating the IVS3-1G --> A mutation and demonstrate for the first time that altered splicing and decreased enzymatic activity occur. RNA analysis revealed two species in carriers, corresponding to wild-type and mutant transcripts, and only the mutant transcript in affected individuals. Sequencing of the mutant transcript revealed that it lacked exon 3, resulting in a frameshift and introduction of a premature termination codon.
authors.affiliation: Department of Biochemistry and Molecular Biology, Jordan University of Science and Technology, Irbid, Jordan.
authors.forename: Mohamad
authors.initials: M
authors.lastname: Nusier
authors.forename: Yingze
authors.initials: Y
authors.lastname: Zhang
authors.forename: Othman
authors.initials: O
authors.lastname: Yassin
authors.forename: Thomas C
authors.initials: TC
authors.lastname: Hart
authors.forename: P Suzanne
authors.initials: PS
authors.lastname: Hart
mesh_terms: D017398:Alternative Splicing / Q000235:genetics*; D001483:Base Sequence; D020789:Cathepsin C / Q000235:genetics* / Q000378:metabolism; D003241:Consanguinity; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D005192:Family Health; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D009154:Mutation; D010214:Papillon-Lefevre Disease / Q000201:enzymology / Q000235:genetics*; D010375:Pedigree
chemical_list: D018076:DNA, Complementary; D004247:DNA; D020789:Cathepsin C