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

Research paper by Akihiro A Katayama, Jun J Wada, Hitomi Usui HU Kataoka, Hiroko H Yamasaki, Sanae S Teshigawara, Takahiro T Terami, Kentaro K Inoue, Motoko M Kanzaki, Kazutoshi K Murakami, Atsuko A Nakatsuka, Hitoshi H Sugiyama, Norio N Koide, Hideaki H Bujo, Hirofumi H Makino

Indexed on: 01 Oct '11Published on: 01 Oct '11Published in: NDT plus



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.