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Katayama_2011_NDT.Plus_4_299

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Title : Two novel mutations of lecithin:cholesterol acyltransferase (LCAT) gene and the influence of APOE genotypes on clinical manifestations - Katayama_2011_NDT.Plus_4_299
Author(s) : Katayama A , Wada J , Kataoka HU , Yamasaki H , Teshigawara S , Terami T , Inoue K , Kanzaki M , Murakami K , Nakatsuka A , Sugiyama H , Koide N , Bujo H , Makino H
Ref : NDT Plus , 4 :299 , 2011
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 4/3, the second 2/2; 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 2/2 may not be the major determinant gene for the appearance of IDL in FLD patients.
PubMedSearch : Katayama_2011_NDT.Plus_4_299
PubMedID: 25984174
Gene_locus related to this paper: human-LCAT

Related information

Mutation M293T_human-LCAT    P69L_human-LCAT
Gene_locus human-LCAT
Disease Lecithin-cholesterol acyltransferase deficiency (LCATD) and fish-eye disease (FED)

Citations formats

Katayama A, Wada J, Kataoka HU, Yamasaki H, Teshigawara S, Terami T, Inoue K, Kanzaki M, Murakami K, Nakatsuka A, Sugiyama H, Koide N, Bujo H, Makino H (2011)
Two novel mutations of lecithin:cholesterol acyltransferase (LCAT) gene and the influence of APOE genotypes on clinical manifestations
NDT Plus 4 :299

Katayama A, Wada J, Kataoka HU, Yamasaki H, Teshigawara S, Terami T, Inoue K, Kanzaki M, Murakami K, Nakatsuka A, Sugiyama H, Koide N, Bujo H, Makino H (2011)
NDT Plus 4 :299