Novel stop mutation causing familial hypercholesterolemia in a Costa Rican family

R Thiart; O Loubser; J N de Villiers; M Santos; M J Kotze

doi:10.1006/mcpr.1997.0134

Novel stop mutation causing familial hypercholesterolemia in a Costa Rican family

Mol Cell Probes. 1997 Dec;11(6):457-8. doi: 10.1006/mcpr.1997.0134.

Authors

R Thiart¹, O Loubser, J N de Villiers, M Santos, M J Kotze

Affiliation

¹ Department of Human Genetics, Faculty of Medicine, University of Stellenbosch, Tygerberg, South Africa.

PMID: 9500809
DOI: 10.1006/mcpr.1997.0134

Abstract

Combined heteroduplex single-strand conformation polymorphism (HEX-SSCP) analysis of the promoter and coding region of the low density lipoprotein receptor (LDLR) gene revealed a novel C to T mutation at nucleotide position 2056 in a Costa Rican patient with heterozygous familial hypercholesterolemia (FH). This nonsense mutation, Q665X, results in a termination codon in the epidermal growth factor (EGF) precursor homology domain of the mature LDLR.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Costa Rica
Humans
Hypercholesterolemia / genetics*
Mutation*
Polymorphism, Single-Stranded Conformational
Receptors, LDL / genetics*

Substances

Receptors, LDL