Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum

Citation
B. Struk et al., Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum, J MOL MED-J, 78(5), 2000, pp. 282-286
Citations number
10
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Medical Research General Topics
Journal title
JOURNAL OF MOLECULAR MEDICINE-JMM
ISSN journal
0946-2716 → ACNP
Volume
78
Issue
5
Year of publication
2000
Pages
282 - 286
Database
ISI
SICI code
0946-2716(2000)78:5<282:MOTGET>2.0.ZU;2-S
Abstract
We recently published the precise chromosomal localization on chromosome 16 p13.1 of the genetic defect underlying pseudoxanthoma elasticum (PXE), an i nherited disorder characterized by progressive calcification of elastic fib ers in skin, eye, and the cardiovascular system. Here we report the identif ication of mutations in the gene encoding the transmembrane transporter pro tein, ABC-C6 (also known as MRP-6), one of the four genes located in the re gion of linkage, as cause of the disease. Sequence analysis in four indepen dent con sanguineous families from Switzerland, Mexico, and South Africa an d in one non-consanguineous family from the United States demonstrated seve ral different mis-sense mutations to cosegregate with the disease: phenotyp e. These findings are consistent with the conclusion that PXE is a recessiv e disorder that displays allelic heterogeneity, which may explain the consi derable phenotypic variance characteristic of the disorder.