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

dc.contributorStruk, B., Department of Cardiology, Children's Hospital, Brigham and Women's Hospital, Boston, MA 021152, United States, Max Delbruck Ctr. for Molec. Med., 13122 Berlin, Germany, F. Hoffmann-La Roche Ltd, Roche Genetics, Pharmaceuticals Division, 4070 Basel, Switzerland; Cai, L., Department of Cardiology, Children's Hospital, Brigham and Women's Hospital, Boston, MA 021152, United States; ZZapotitlánch, S., Department of Dermatology, University of Lausanne, 1011 Lausanne, Switzerland; Ji, W., Department of Cardiology, Children's Hospital, Brigham and Women's Hospital, Boston, MA 021152, United States, F. Hoffmann-La Roche Ltd, Roche Genetics, Pharmaceuticals Division, 4070 Basel, Switzerland; Chung, J., Department of Cardiology, Children's Hospital, Brigham and Women's Hospital, Boston, MA 021152, United States; Lumsden, A., Dept. of Cytogenet./Molec. Genet., Women's and Children's Hospital, 71 King William Road, North Adelaide, SA 5006, Australia; Stumm, M., Human Genetics Institute, Otto-von-Guericke-University, Magdeburg, Germany; Huber, M., Department of Dermatology, University of Lausanne, 1011 Lausanne, Switzerland; Schaen, L., Department of Dermatology, University of Rochester, Rochester, NY 14642, United States; Kim, C.-A., Department of Cardiology, Children's Hospital, Brigham and Women's Hospital, Boston, MA 021152, United States; Goldsmith, L.A., Department of Dermatology, University of Rochester, Rochester, NY 14642, United States; Viljoen, D., S. African Inst. for Med. Research, Johannesburg, South Africa; Figuera, L.E., Divisions of Genet./Molec. Medicine, CIBO-IMSS, Univ. of Guadalajara Medical School, Guadalajara, Mexico; Fuchs, W., Department of Ophthalmology, Mount Sinai School of Medicine, New York, NY 10029, United States; Munier, F., Department of Ophthalmology, University of Lausanne, 1011 Lausanne, Switzerland; Ramesar, R.; Hohl, D., Department of Dermatology, University of Lausanne, 1011 Lausanne, Switzerland; Richards, R., Dept. of Cytogenet./Molec. Genet., Women's and Children's Hospital, 71 King William Road, North Adelaide, SA 5006, Australia, Department of Genetics, University of Adelaide, Adelaide, SA 5000, Australia; Neldner, K.H., Department of Dermatology, Texas Tech Univ. Hlth. Sci. Center, Lubbock, TX 79430, United States; Lindpaintner, K., Max Delbruck Ctr. for Molec. Med., 13122 Berlin, Germany, F. Hoffmann-La Roche Ltd, Roche Genetics, Pharmaceuticals Division, 4070 Basel, Switzerland
dc.creatorStruk, B.
dc.creatorCai, L.
dc.creatorZach, S.
dc.creatorJi, W.
dc.creatorChung, J.
dc.creatorLumsden, A.
dc.creatorStumm, M.
dc.creatorHuber, M.
dc.creatorSchaen, L.
dc.creatorKim, C.-A.
dc.creatorGoldsmith, L.A.
dc.creatorViljoen, D.
dc.creatorFiguera, L.E.
dc.creatorFuchs, W.
dc.creatorMunier, F.
dc.creatorRamesar, R.
dc.creatorHohl, D.
dc.creatorRichards, R.
dc.creatorNeldner, K.H.
dc.creatorLindpaintner, K.
dc.date.accessioned2015-09-15T18:27:24Z
dc.date.accessioned2022-11-02T14:45:49Z
dc.date.available2015-09-15T18:27:24Z
dc.date.available2022-11-02T14:45:49Z
dc.date.created2015-09-15T18:27:24Z
dc.date.issued2000
dc.identifierhttp://hdl.handle.net/20.500.12104/43007
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-0033930195&partnerID=40&md5=43365f18b6ac7419d839652a07677501
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/5003690
dc.description.abstractWe 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.
dc.relationScopus
dc.relationWOS
dc.relationJournal of Molecular Medicine
dc.relation78
dc.relation5
dc.relation282
dc.relation286
dc.titleMutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum
dc.typeArticle


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