title: Identification of a new mutation, S305C, in exon 7 of the low-density lipoprotein receptor gene in a Brazilian family with homozygous familial hypercholesterolemia.
abstract: DNA analysis of the low-density lipoprotein receptor gene of a young Brazilian man, suffering from an extreme form of hypercholesterolemia, revealed the presence of two mutations, thereby confirming the diagnosis of homozygous familial hypercholesterolemia (FH). The first mutation was a mutation frequently found in Brazilian patients with FH, termed C660X or FHLebanese. The second mutation, in which a serine residue was replaced by a cysteine at amino acid position 305 (S305C) was a new mutation never described before. S305C was inherited from the proband's mother, who was of Italian descent. The occurrence of LDL receptor gene mutations of Lebanese and Italian origin in Brazil underlines the genetic heterogeneity of the Brazilian population.
authors.affiliation: Department of Vascular Medicine of the Academic Medical Center at the University of Amsterdam, 1100 De Amsterdam, The Netherlands.
authors.forename: Laura
authors.initials: L
authors.lastname: van de Kerkhof
authors.forename: Silvia J
authors.initials: SJ
authors.lastname: Van Eijk
authors.forename: Joep C
authors.initials: JC
authors.lastname: Defesche
authors.forename: José-Ernesto
authors.initials: JE
authors.lastname: Dos-Santos
mesh_terms: D000328:Adult; D001938:Brazil; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D011973:Receptors, LDL