title: Two novel mutations of lecithin:cholesterol acyltransferase (LCAT) gene and the influence of APOE genotypes on clinical manifestations.
abstract: Familial lecithin:cholesterol acyltransferase deficiency (FLD) is an autosomal recessive disorder characterized by corneal opacity, hemolytic anemia, low high-density lipoprotein cholesterol (HDL-C) and proteinuria. Two novel lecithin:cholesterol acyltransferase (LCAT) mutations[c.278 C>T (p.Pro69Leu); c.950 T>C (p.Met293Thr)] were identified in a 27-year-old man and in a 30-year-old woman, respectively. Both patients manifested corneal opacity, hemolytic anemia, low low-density lipoprotein cholesterol and HDL-C and proteinuria. Lipid deposits with vacuolar lucent appearance in glomerular basement membranes were observed in both cases. APOE genotype was also investigated: the first case results ϵ4/ϵ3, the second ϵ2/ϵ2; however, they shared a similar phenotype characterized by the presence of intermediate-density lipoproteins (IDL) remnant and the absence of lipoprotein-X. In conclusion, our findings suggest that APOE ϵ2/ϵ2 may not be the major determinant gene for the appearance of IDL in FLD patients.
authors.affiliation: Department of Medicine and Clinical Sciences, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
authors.forename: Akihiro
authors.initials: A
authors.lastname: Katayama
authors.affiliation: Department of Medicine and Clinical Sciences, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
authors.forename: Jun
authors.initials: J
authors.lastname: Wada
authors.affiliation: Department of Primary Care and Medical Education, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
authors.forename: Hitomi Usui
authors.initials: HU
authors.lastname: Kataoka
authors.affiliation: Department of Medicine and Clinical Sciences, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
authors.forename: Hiroko
authors.initials: H
authors.lastname: Yamasaki
authors.affiliation: Department of Medicine and Clinical Sciences, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
authors.forename: Sanae
authors.initials: S
authors.lastname: Teshigawara
authors.affiliation: Department of Medicine and Clinical Sciences, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
authors.forename: Takahiro
authors.initials: T
authors.lastname: Terami
authors.affiliation: Department of Medicine and Clinical Sciences, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
authors.forename: Kentaro
authors.initials: K
authors.lastname: Inoue
authors.affiliation: Department of Medicine and Clinical Sciences, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
authors.forename: Motoko
authors.initials: M
authors.lastname: Kanzaki
authors.affiliation: Department of Medicine and Clinical Sciences, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
authors.forename: Kazutoshi
authors.initials: K
authors.lastname: Murakami
authors.affiliation: Department of Medicine and Clinical Sciences, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
authors.forename: Atsuko
authors.initials: A
authors.lastname: Nakatsuka
authors.affiliation: Department of Medicine and Clinical Sciences, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Sugiyama
authors.affiliation: Department of Laboratory Medicine, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
authors.forename: Norio
authors.initials: N
authors.lastname: Koide
authors.affiliation: Department of Genome Research and Clinical Application, Graduate School of Medicine, Chiba University, Chiba, Japan.
authors.forename: Hideaki
authors.initials: H
authors.lastname: Bujo
authors.affiliation: Department of Medicine and Clinical Sciences, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Makino
keywords: APOE genotype; IDL remnant; familial LCAT deficiency (FLD); lipoprotein-X