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Case Reports
. 2011 Oct;4(5):299-302.
doi: 10.1093/ndtplus/sfr091. Epub 2011 Jul 26.

Two novel mutations of lecithin:cholesterol acyltransferase (LCAT) gene and the influence of APOE genotypes on clinical manifestations

Akihiro Katayama  1 , Jun Wada  1 , Hitomi Usui Kataoka  2 , Hiroko Yamasaki  1 , Sanae Teshigawara  1 , Takahiro Terami  1 , Kentaro Inoue  1 , Motoko Kanzaki  1 , Kazutoshi Murakami  1 , Atsuko Nakatsuka  1 , Hitoshi Sugiyama  1 , Norio Koide  3 , Hideaki Bujo  4 , Hirofumi Makino  1
Affiliations
Case Reports

Two novel mutations of lecithin:cholesterol acyltransferase (LCAT) gene and the influence of APOE genotypes on clinical manifestations

Akihiro Katayama et al. NDT Plus. 2011 Oct.

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.

Keywords: APOE genotype; IDL remnant; familial LCAT deficiency (FLD); lipoprotein-X.

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Figures

Fig. 1.
Fig. 1.
Presented cases with FLD. (A, B) Family trees of Cases 1 and 2. Squares are male, circles are female. Filled symbols indicate homozygous carriers and left filled symbols indicate heterozygous carriers. The deceased subjects are indicated with the oblique lines. Members without genetic analysis are presented in gray tone. The consanguinity of patients' parents are indicated by doubled line. (C, D) Determination of the LCAT gene sequences of proband and their families. Heterozygous mutation of mother and elder sister and homozygous mutation of proband are shown in Cases 1 (C) and 2 (D). (E, F) Renal biopsy findings of Cases 1 and 2. Electron micrograph shows lipid deposits with a vacuolar lucent appearance in the GBM (bar = 2 μm). (G–I) High-performance liquid chromatography patterns of Cases 1 (G), 2 (H) and normal healthy control (I).
See this image and copyright information in PMC

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