title: A double mutant LDL receptor allele in a cypriot family with heterozygous familial hypercholesterolemia.
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.
authors.affiliation: Department of Human Genetics, Faculty of Medicine, University of Stellenbosch, Tygerberg, South Africa. mjk@maties.sun.ac.za
authors.forename: M J
authors.initials: MJ
authors.lastname: Kotze
authors.forename: J N
authors.initials: JN
authors.lastname: de Villiers
authors.forename: O
authors.initials: O
authors.lastname: Loubser
authors.forename: R
authors.initials: R
authors.lastname: Thiart
authors.forename: C L
authors.initials: CL
authors.lastname: Scholtz
authors.forename: F J
authors.initials: FJ
authors.lastname: Raal
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D003535:Cyprus; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D005091:Exons; D005260:Female; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D011973:Receptors, LDL; C025630:CAGCTG-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific; C038308:GGWCC-specific type II deoxyribonucleases