A double mutant LDL receptor allele in a Cypriot family with heterozygous familial hypercholesterolemia |
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| Authors: | M. J. Kotze J. Nico P. de Villiers Odell Loubser Rochelle Thiart Charlotte L. Scholtz Frederick J. Raal |
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| Affiliation: | (1) Department of Human Genetics, Faculty of Medicine, University of Stellenbosch, P.O. Box 19063, Tygerberg 7505, South Africa Tel.: +27-21-9389443; Fax: +27-21-9317810 e-mail: mjk@maties.sun.ac.za, ZA;(2) Department of Medicine, University of the Witwatersrand, Johannesburg, South Africa, ZA |
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| Abstract: | Two novel mutations Q363X and D365E were identified in the low-density lipoprotein receptor gene in a Cypriot patient with heterozygous familial hypercholesterolemia. Restriction enzyme analysis of the index case and seven of her family members, by using AvaII and PvuII respectively, demonstrated that the two exon 8 mutations are transmitted in cis within the family. The disease phenotype is probably caused by the stop-363 mutation; this would result in a truncated protein that would probably be rapidly degraded in the extracellular space. Received: 15 August 1996 / Accepted: 10 February 1997 |
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