title: [From gene to disease; pseudoxanthoma elasticum and the ABCC6 gene].
abstract: Pseudoxanthoma elasticum (PXE) is a hereditary disease of the connective tissue characterized by progressive dystrophic mineralization of elastic fibres. PXE patients have skin lesions, may experience loss of visual acuity and cardiovascular complications. The inheritance pattern of PXE is almost always autosomal recessive. In less than 2% of the families, PXE may be inherited in an autosomal dominant fashion. PXE is caused by mutations in the ABCC6 (MRP6) gene. The R1141X mutation is by far the most common mutation; it has been identified in 19 patients, or 30% of all PXE-patients in the Netherlands. The molecular pathology of PXE is complicated by yet unknown factors causing a variable clinical expression of the disease. In 80% of the 110 PXE patients the authors studied, at least one ABCC6 mutation was found. Molecular diagnostics of PXE is especially useful to confirm the clinical diagnosis.
authors.affiliation: Interuniversitair Oogheelkundig Instituut, Meibergdreef 47, 11o05 BA Amsterdam. a.bergen@ioi.knaw.nl
authors.forename: A A B
authors.initials: AA
authors.lastname: Bergen
authors.forename: A S
authors.initials: AS
authors.lastname: Plomp
authors.forename: T G M F
authors.initials: TG
authors.lastname: Gorgels
authors.forename: P T V M
authors.initials: PT
authors.lastname: de Jong
mesh_terms: D005799:Genes, Dominant / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D011561:Pseudoxanthoma Elasticum / Q000235:genetics* / Q000473:pathology
chemical_list: D027425:ATP-Binding Cassette, Sub-Family C Proteins; C102029:ABCC6 protein, human
vernacular_title: Van gen naar ziekte; pseudoxanthoma elasticum en het ABCC6-gen.