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

Item Type:Article
Title:Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum
Creators Name:Struk, B. and Cai, L. and Zaech, S. and Chung, W.J.J. and Lumsden, A. and Stumm, M. and Huber, M. and Schaen, L. and Kim, C.A. and Goldsmith, L.A. and Viljoen, D. and Figuera, L.E. and Fuchs, W. and Munier, F. and Ramesar, R. and Hohl, D. and Richards, R. and Neldner, K.H. and Lindpaintner, K.
Abstract:We recently published the precise chromosomal localization on chromosome 16p13.1 of the genetic defect underlying pseudoxanthoma elasticum (PXE), an inherited disorder characterized by progressive calcification of elastic fibers in skin, eye, and the cardiovascular system. Here we report the identification of mutations in the gene encoding the transmembrane transporter protein, ABC-C6 (also known as MRP-6), one of the four genes located in the region of linkage, as cause of disease. Sequence analysis in four independent consanguineous families from Switzerland, Mexico, and South Africa and in one non-consanguineous family from the United States demonstrated several different mis-sense mutations to cosegregate with the conclusion that PXE is a recessive disorder that displays allelic heterogeneity, which may explain the considerable phenotypic variance characteristic of the disorder.
Keywords:ATP-Binding Cassette Transporters, Consanguinity, Haplotypes, Homozygote, Multidrug Resistance-Associated Proteins, Mutation, Pedigree, Point Mutation, Pseudoxanthoma Elasticum, Restriction Fragment Length Polymorphism
Source:Journal of Molecular Medicine
Page Range:282-286
Date:1 January 2000
Official Publication:https://doi.org/10.1007/s001090000114
PubMed:View item in PubMed

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