title: Acquired Pseudoxanthoma elasticum-like syndrome in beta-thalassaemia patients.
abstract: A significant number of patients diagnosed with beta-thalassaemia develop clinical and histopathological manifestations similar to those of an inherited disorder called Pseudoxanthoma elasticum (PXE). The inherited PXE is caused by mutations in the ATP-binding cassette, subfamily C (CFTR/MRP), member 6 (ABCC6) gene and is characterized by mineralized elastic fibres in dermal, vascular and ocular tissues. As no disease-causing variant was found in the ABCC6 gene of 10 beta-thalassaemia patients with a PXE-like phenotype, the present study suggests that the PXE-like symptoms in these beta-thalassaemic patients are not related to ABCC6 mutations.
authors.affiliation: Pacific Biomedical Research Center, University of Hawai'i, Honolulu, HI 96822, USA.
authors.forename: Naomi
authors.initials: N
authors.lastname: Hamlin
authors.forename: Konstanze
authors.initials: K
authors.lastname: Beck
authors.forename: Barbara
authors.initials: B
authors.lastname: Bacchelli
authors.forename: Paolo
authors.initials: P
authors.lastname: Cianciulli
authors.forename: Ivonne
authors.initials: I
authors.lastname: Pasquali-Ronchetti
authors.forename: Olivier
authors.initials: O
authors.lastname: Le Saux
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D010375:Pedigree; D011561:Pseudoxanthoma Elasticum / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D018528:ATP-Binding Cassette Transporters