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Katayama A, Wada J, Kataoka HU, et al. Two novel mutations of lecithin:cholesterol acyltransferase (LCAT) gene and the influence of APOE genotypes on clinical manifestations. NDT Plus. 2011;4(5):299-302doi: 10.1093/ndtplus/sfr091.
Katayama, A., Wada, J., Kataoka, H. U., 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(5), 299-302. https://doi.org/10.1093/ndtplus/sfr091
Katayama, Akihiro, et al. "Two novel mutations of lecithin:cholesterol acyltransferase (LCAT) gene and the influence of APOE genotypes on clinical manifestations." NDT plus vol. 4,5 (2011): 299-302. doi: https://doi.org/10.1093/ndtplus/sfr091
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. Two novel mutations of lecithin:cholesterol acyltransferase (LCAT) gene and the influence of APOE genotypes on clinical manifestations. NDT Plus. 2011 Oct;4(5):299-302. doi: 10.1093/ndtplus/sfr091. Epub 2011 Jul 26. PMID: 25984174; PMCID: PMC4421733.
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NDT Plus. 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.

NDT plus

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

Affiliations

  1. Department of Medicine and Clinical Sciences, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
  2. Department of Primary Care and Medical Education, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
  3. Department of Laboratory Medicine, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
  4. Department of Genome Research and Clinical Application, Graduate School of Medicine, Chiba University, Chiba, Japan.

PMID: 25984174 PMCID: PMC4421733 DOI: 10.1093/ndtplus/sfr091

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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