title: Intronic mutations at splice junctions in the low-density lipoprotein receptor gene.
abstract: Most of the low-density lipoprotein receptor (LDLR) gene mutations causing familial hypercholesterolemia (FH) have been identified in the coding region of the gene. We have screened 180 patients for disease-related gene defects and report the identification of three previously described (IVS3+1G-->A, IVS9-1G-->A and IVS16-2A-->G) and two novel mutations (IVS2+1G-->A and IVS14+1G-->T) at splice junctions. Approximately 9% (38/404) of LDLR gene point mutations identified to date in FH patients occur in introns and may affect splicing. The severe consequences of these mutations make them an important target for the molecular analysis of FH.
authors.affiliation: MRC Cape Heart Group, Faculty of Medicine, Tygerberg, South Africa.
authors.forename: A V
authors.initials: AV
authors.lastname: Peeters
authors.forename: R
authors.initials: R
authors.lastname: Thiart
authors.forename: J N
authors.initials: JN
authors.lastname: de Villiers
authors.forename: H K
authors.initials: HK
authors.lastname: Jensen
authors.forename: L F
authors.initials: LF
authors.lastname: Van Gaal
authors.forename: M J
authors.initials: MJ
authors.lastname: Kotze
mesh_terms: D004252:DNA Mutational Analysis; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D007438:Introns; D017354:Point Mutation; D012326:RNA Splicing; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D011973:Receptors, LDL