TY - JOUR
T1 - Two novel mutations of lecithin:cholesterol acyltransferase (LCAT) gene and the influence of APOE genotypes on clinical manifestations
AU - Katayama, Akihiro
AU - Wada, Jun
AU - Kataoka, Hitomi Usui
AU - Yamasaki, Hiroko
AU - Teshigawara, Sanae
AU - Terami, Takahiro
AU - Inoue, Kentaro
AU - Kanzaki, Motoko
AU - Murakami, Kazutoshi
AU - Nakatsuka, Atsuko
AU - Sugiyama, Hitoshi
AU - Koide, Norio
AU - Bujo, Hideaki
AU - Makino, Hirofumi
PY - 2011/10
Y1 - 2011/10
N2 - 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.
AB - 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.
KW - APOE genotype
KW - IDL remnant
KW - familial LCAT deficiency (FLD)
KW - lipoprotein-X
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U2 - 10.1093/ndtplus/sfr091
DO - 10.1093/ndtplus/sfr091
M3 - Article
AN - SCOPUS:80053426715
SN - 2048-8505
VL - 4
SP - 299
EP - 302
JO - CKJ: Clinical Kidney Journal
JF - CKJ: Clinical Kidney Journal
IS - 5
ER -