Acquired Pseudoxanthoma elasticum-like syndrome in beta-thalassaemia patients.
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.
Hamlin
Naomi
N
Pacific Biomedical Research Center, University of Hawai'i, Honolulu, HI 96822, USA.
Beck
Konstanze
K
Bacchelli
Barbara
B
Cianciulli
Paolo
P
Pasquali-Ronchetti
Ivonne
I
Le Saux
Olivier
O
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*
D018528:ATP-Binding Cassette Transporters