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A novel missense mutation (Asn5→Ile) in lecithin: cholesterol acyltransferase (LCAT) gene in a Japanese patient with LCAT deficiency

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International Journal of Clinical and Laboratory Research

Abstract

We identified a novel missense mutation in the lecithin: cholesterol acyltransferase gene in a new case of lecithin:cholesterol acyltransferase (LCAT) deficiency. The patient was a 64-year-old diabetic Japanese male who showed an extremely low level of serum high-density lipoprotein-cholesterol, corneal opacities, anemia, and proteinuria. Both the patient's LCAT activity and mass were markedly low. DNA sequence analysis of the LCAT gene showed an A-to-T transition at base 97 in exon 1, and predicted a change in asparagine to isoleucine at the 5th amino acid of the protein. Restriction analysis of polymerase chain reaction-amplified DNA usingAse I showed that the patient was homozygous for this mutation. Our results suggested that asparagine 5 was an important amino acid and substitution with isoleucine caused marked reduction of LCAT activity and mass, resulting in LCAT deficiency.

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Authors and Affiliations

  1. Department of Endocrinology and Metabolism, Toranomon Hospital and Okinaka Memorial Institute for Medical Research, 2-2-2 Toranomon, Minato-ku, 105, Tokyo, Japan

    M. Okubo, Y. Aoyama & T. Murase

  2. Department of Medicine, Tottori Central Hospital, Tottori, Japan

    H. Shio

  3. Department of Medicine, Northwest Lipid Research Laboratories, University of Washington School of Medicine, Seattle, USA

    J. J. Albers

Authors
  1. M. Okubo
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  2. Y. Aoyama
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  3. H. Shio
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  4. J. J. Albers
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  5. T. Murase
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Okubo, M., Aoyama, Y., Shio, H. et al. A novel missense mutation (Asn5→Ile) in lecithin: cholesterol acyltransferase (LCAT) gene in a Japanese patient with LCAT deficiency. Int J Clin Lab Res 26, 250–254 (1996). https://doi.org/10.1007/BF02602958

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  • DOI: https://doi.org/10.1007/BF02602958

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