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

• Published in: Clinical kidney journal 2011-10, Vol.4 (5), p.299-302
• Main Authors: Katayama, Akihiro, Wada, Jun, Kataoka, Hitomi Usui, Yamasaki, Hiroko, Teshigawara, Sanae, Terami, Takahiro, Inoue, Kentaro, Kanzaki, Motoko, Murakami, Kazutoshi, Nakatsuka, Atsuko, Sugiyama, Hitoshi, Koide, Norio, Bujo, Hideaki, Makino, Hirofumi
• Format: Article
• Language: English
• Subjects: II. Clinical Reports
• ISSN: 2048-8505; 1753-0784; 2048-8513; 1753-0792
• DOI: 10.1093/ndtplus/sfr091

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.