A double mutant LDL receptor allele in a Cypriot family with heterozygous familial hypercholesterolemia
Date
1997
Authors
Kotze M.J.
De Villiers J.N.P.
Loubser O.
Thiart R.
Scholtz C.L.
Raal F.J.
Journal Title
Journal ISSN
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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.
Description
Keywords
low density lipoprotein receptor, article, cyprus, familial hypercholesterolemia, female, gene mutation, heterozygote, human, priority journal, receptor gene, restriction mapping, stop codon, Adolescent, Adult, Alleles, Child, Child, Preschool, Cyprus, Deoxyribonucleases, Type II Site-Specific, Exons, Female, Haplotypes, Heterozygote, Humans, Hyperlipoproteinemia Type II, Male, Pedigree, Point Mutation, Receptors, LDL
Citation
Human Genetics
100
1
100
1