caa a22 4500 47705451X CHVBK 20180405111344.0 cr unu---uuuuu 170330e19961201xx s 000 0 eng 10.1007/BF02602958 doi (NATIONALLICENCE)springer-10.1007/BF02602958 A novel missense mutation (Asn5→Ile) in lecithin: cholesterol acyltransferase (LCAT) gene in a Japanese patient with LCAT deficiency [Elektronische Daten] [M. Okubo, Y. Aoyama, H. Shio, J. Albers, T. Murase] 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. Springer-Verlag, 1996 Lecithin:cholesterol acyltransferase deficiency nationallicence High-density lipoprotein nationallicence Missense mutation nationallicence Diabetes mellitus nationallicence Okubo M. Department of Endocrinology and Metabolism, Toranomon Hospital and Okinaka Memorial Institute for Medical Research, 2-2-2 Toranomon, Minato-ku, 105, Tokyo, Japan aut Aoyama Y. Department of Endocrinology and Metabolism, Toranomon Hospital and Okinaka Memorial Institute for Medical Research, 2-2-2 Toranomon, Minato-ku, 105, Tokyo, Japan aut Shio H. Department of Medicine, Tottori Central Hospital, Tottori, Japan aut Albers J. Department of Medicine, Northwest Lipid Research Laboratories, University of Washington School of Medicine, Seattle, USA aut Murase T. Department of Endocrinology and Metabolism, Toranomon Hospital and Okinaka Memorial Institute for Medical Research, 2-2-2 Toranomon, Minato-ku, 105, Tokyo, Japan aut International Journal of Clinical and Laboratory Research Springer-Verlag 26/4(1996-12-01), 250-254 0940-5437 26:4<250 1996 26 599 https://doi.org/10.1007/BF02602958 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF02602958 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Okubo M. Department of Endocrinology and Metabolism, Toranomon Hospital and Okinaka Memorial Institute for Medical Research, 2-2-2 Toranomon, Minato-ku, 105, Tokyo, Japan aut NATIONALLICENCE 700 1- Aoyama Y. Department of Endocrinology and Metabolism, Toranomon Hospital and Okinaka Memorial Institute for Medical Research, 2-2-2 Toranomon, Minato-ku, 105, Tokyo, Japan aut NATIONALLICENCE 700 1- Shio H. Department of Medicine, Tottori Central Hospital, Tottori, Japan aut NATIONALLICENCE 700 1- Albers J. Department of Medicine, Northwest Lipid Research Laboratories, University of Washington School of Medicine, Seattle, USA aut NATIONALLICENCE 700 1- Murase T. Department of Endocrinology and Metabolism, Toranomon Hospital and Okinaka Memorial Institute for Medical Research, 2-2-2 Toranomon, Minato-ku, 105, Tokyo, Japan aut NATIONALLICENCE 773 0- International Journal of Clinical and Laboratory Research Springer-Verlag 26/4(1996-12-01), 250-254 0940-5437 26:4<250 1996 26 599 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer