Genetics of LCAT (lecithin: cholesterol acyltransferase) deficiency.
Since 1967 a syndrome characterized by renal disease, normochromic anaemia and corneal opacities has been described in 7 members of 3 different Norweigan families. The patients have low levels of esterified cholesterol and lack LCAT (lecithin: cholesterol acyltransferase) activity in plasma. The genetic basis of the disorder seems to be the presence of a LCAT deficiency gene in double dose. This gene is probably the result of a single mutational event. Linkage studies revealed non-random assortment between LCTA deficiency and serum haptoglobin (Hp) types. After Hp subtyping a combined lod score of 3-41 at a recombination fraction of 0-00 was obtained. Association was revealed between the LCAT deficiency gene and the Hp-1S gene. We propose that the LCAT gene is situated close to the alpha-haptoglobin locus on chromosome no. 16.
D000217:Acyltransferases / Q000172:deficiency*; D000740:Anemia / Q000209:etiology; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002902:Chromosomes, Human, 16-18; D003318:Corneal Opacity / Q000209:etiology; D005260:Female; D008040:Genetic Linkage; D006242:Haptoglobins / Q000032:analysis; D006801:Humans; D007674:Kidney Diseases / Q000209:etiology; D007863:Lecithin Cholesterol Acyltransferase Deficiency; D008052:Lipid Metabolism, Inborn Errors / Q000201:enzymology; D008297:Male; D008967:Molecular Biology; D009154:Mutation; D010375:Pedigree; D007862:Phosphatidylcholine-Sterol O-Acyltransferase / Q000097:blood; D011336:Probability; D011995:Recombination, Genetic; D013577:Syndrome
D006242:Haptoglobins; D000217:Acyltransferases; D007862:Phosphatidylcholine-Sterol O-Acyltransferase