Two novel frame shift mutations in lecithin:cholesterol acyltransferase (LCAT) gene associated with a familial LCAT deficiency phenotype

Atherosclerosis

Volumn 206, Issue 2, 2009, Pages 346-348

  Park, Cheol Whee ^a   Lim, Mi Hyun ^a   Youn, Dong Ye ^a   Jung, Seung Eun ^b   Chung, Sungjin ^a   Ahn, Young Soo ^c   Chang, Yoon Sik ^a   Lee, Jeong Hwa ^a  

^a The Catholic University of Korea   (South Korea)

^b Yonsei University   (South Korea)

^c Brain Research Institute   (South Korea)

Author keywords

Compound heterozygous mutation; Familial LCAT deficiency; High density lipoprotein; LCAT gene mutation

Indexed keywords

APOLIPOPROTEIN A1; APOLIPOPROTEIN A2; CHOLESTEROL; CHOLESTEROL ESTER; HIGH DENSITY LIPOPROTEIN; PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE;

ADULT; BIOCHEMISTRY; CASE REPORT; CLINICAL FEATURE; CORNEA OPACITY; EXON; FRAMESHIFT MUTATION; GENOTYPE; GLOMERULOSCLEROSIS; HEMATURIA; HISTOPATHOLOGY; HUMAN; KIDNEY DYSFUNCTION; KIDNEY FIBROSIS; KOREA; LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY; LETTER; LIPOPROTEIN BLOOD LEVEL; MALE; PHENOTYPE; PRIORITY JOURNAL; PROTEINURIA; VISUAL DISORDER;

ADULT; CORNEAL OPACITY; FRAMESHIFT MUTATION; HUMANS; LECITHIN ACYLTRANSFERASE DEFICIENCY; MALE; PHOSPHATIDYLCHOLINE-STEROL O-ACYLTRANSFERASE;

EID: 70349421152     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2009.03.001     Document Type: Letter

References (14)

1. Glomset J.A. The mechanism of the plasma cholesterol esterification reaction: plasma fatty acid transferase. Biochim Biophys Acta 65 (1962) 128-135
2. Aron L., Jones S., and Fielding C.J. Human plasma lecithin-cholesterol acyltransferase. Characterization of cofactor-dependent phospholipase activity. J Biol Chem 253 (1978) 7220-7226
3. Klein H.G., Lohse P., Pritchard P.H., et al. Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123 → Ile) and lecithin-cholesterol acyltransferase (Thr347 → Met). J Clin Invest 89 (1992) 499-506
4. Stokke K.T., Bjerve K.S., Blomhoff J.P., et al. Familial lecithin:cholesterol acyltransferase deficiency. Studies on lipid composition and morphology of tissues. Scand J Clin Lab Invest 137 Suppl (1974) 93-100
5. Murayama N., Asano Y., Hosoda S., et al. Decreased sodium influx and abnormal red cell membrane lipids in a patient with familial plasma lecithin: cholesterol acyltransferase deficiency. Am J Hematol 16 (1984) 129-137
6. Gjone E. Familial lecithin: cholesterol acyltransferase (LCAT) deficiency. An updated review Spring 1988. Ophthalmic Paediatr Genet 9 (1988) 167-169
7. Teisberg P., Gjone E., and Olaisen B. Genetics of LCAT (lecithin: cholesterol acyltransferase) deficiency. Ann Hum Genet 38 (1975) 327-331
8. McLean J., Wion K., Drayna D., et al. Human lecithin-cholesterol acyltransferase gene: complete gene sequence and sites of expression. Nucleic Acids Res 14 (1986) 9397-9406
9. Kuivenhoven J.A., Pritchard H., Hill J., et al. The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes. J Lipid Res 38 (1997) 191-205
10. Skretting G., and Prydz H. An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease. Biochem Biophys Res Commun 182 (1992) 583-587
11. Bender B.U., Quaschning T., Neumann H.P., et al. A novel frameshift mutation of the lecithin:cholesterol acyltransferase (LCAT) gene associated with renal failure in familial LCAT deficiency. Clin Chem Lab Med 45 (2007) 483-486
12. Yang C.Y., Manoogian D., Pao Q., et al. Lecithin:cholesterol acyltransferase. Functional regions and a structural model of the enzyme. J Biol Chem 262 (1987) 3086-3091
13. Funke H., von Eckardstein A., Pritchard P.H., et al. Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease. J Clin Invest 91 (1993) 677-683
14. Moriyama K., Sasaki J., Arakawa F., et al. Two novel point mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in LCAT deficiency: LCAT (G873 deletion) and LCAT (Gly344-->Ser). J Lipid Res 36 (1995) 2329-2343