title: A novel missense mutation (Asn5-->Ile) in lecithin: cholesterol acyltransferase (LCAT) gene in a Japanese patient with LCAT deficiency.
abstract: We identified a novel missense mutation in the lecithin:cholesterol acyltransferase gene in a new case of lecithin:cholesterol acyltransferase (LCAT) deficiency. The patient was a 64-year-old diabetic Japanese male who showed an extremely low level of serum high-density lipoprotein-cholesterol, corneal opacities, anemia, and proteinuria. Both the patient's LCAT activity and mass were markedly low. DNA sequence analysis of the LCAT gene showed an A-to-T transition at base 97 in exon 1, and predicted a change in asparagine to isoleucine at the 5th amino acid of the protein. Restriction analysis of polymerase chain reaction-amplified DNA using Ase I showed that the patient was homozygous for this mutation. Our results suggested that asparagine 5 was an important amino acid and substitution with isoleucine caused marked reduction of LCAT activity and mass, resulting in LCAT deficiency.
authors.affiliation: Department of Endocrinology and Metabolism, Toranomon Hospital, Tokyo, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Okubo
authors.forename: Y
authors.initials: Y
authors.lastname: Aoyama
authors.forename: H
authors.initials: H
authors.lastname: Shio
authors.forename: J J
authors.initials: JJ
authors.lastname: Albers
authors.forename: T
authors.initials: T
authors.lastname: Murase
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D007862:Phosphatidylcholine-Sterol O-Acyltransferase / Q000235:genetics*; D015183:Restriction Mapping; D017422:Sequence Analysis, DNA
chemical_list: D004247:DNA; D007862:Phosphatidylcholine-Sterol O-Acyltransferase