Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.

Article Details

Citation

Le Saux O, Urban Z, Tschuch C, Csiszar K, Bacchelli B, Quaglino D, Pasquali-Ronchetti I, Pope FM, Richards A, Terry S, Bercovitch L, de Paepe A, Boyd CD

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.

Nat Genet. 2000 Jun;25(2):223-7.

PubMed ID
10835642 [ View in PubMed
]
Abstract

Pseudoxanthoma elasticum (PXE) is a heritable disorder characterized by calcification of elastic fibres in skin, arteries and retina that results in dermal lesions with associated laxity and loss of elasticity, arterial insufficiency and retinal haemorrhages leading to macular degeneration. PXE is usually found as a sporadic disorder, but examples of both autosomal recessive and autosomal dominant forms of PXE have been observed. Partial manifestations of the PXE phenotype have also been described in presumed carriers in PXE families. Linkage of both dominant and recessive forms of PXE to a 5-cM domain on chromosome 16p13.1 has been reported (refs 8,9). We have refined this locus to an 820-kb region containing 6 candidate genes. Here we report the exclusion of five of these genes and the identification of the first mutations responsible for the development of PXE in a gene encoding a protein associated with multidrug resistance (ABCC6).

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Multidrug resistance-associated protein 1P33527Details
Multidrug resistance-associated protein 6O95255Details
Nodal modulator 1Q15155Details