Literature DB >> 806250

Genetics of LCAT (lecithin: cholesterol acyltransferase) deficiency.

P Teisberg, E Gjone, B Olaisen.   

Abstract

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.

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Year:  1975        PMID： 806250     DOI： 10.1111/j.1469-1809.1975.tb00617.x

Source DB:  PubMed          Journal:  Ann Hum Genet        ISSN： 0003-4800            Impact factor:   1.670


  9 in total

1.  A multivariate method for detecting genetic linkage, with application to a pedigree with an adverse lipoprotein phenotype.

Authors:  C I Amos; R C Elston; G E Bonney; B J Keats; G S Berenson
Journal:  Am J Hum Genet       Date:  1990-08       Impact factor: 11.025

Review 2.  Characteristic kidney pathology, gene abnormality and treatments in LCAT deficiency.

Authors:  Shuma Hirashio; Toshinori Ueno; Takayuki Naito; Takao Masaki
Journal:  Clin Exp Nephrol       Date:  2013-10-31       Impact factor: 2.801

3.  Human lecithin-cholesterol acyltransferase gene: complete gene sequence and sites of expression.

Authors:  J McLean; K Wion; D Drayna; C Fielding; R Lawn
Journal:  Nucleic Acids Res       Date:  1986-12-09       Impact factor: 16.971

4.  Genetic control of lecithin-cholesterol acyltransferase (LCAT): measurement of LCAT mass in a large kindred with LCAT deficiency.

Authors:  J J Albers; G Utermann
Journal:  Am J Hum Genet       Date:  1981-09       Impact factor: 11.025

5.  Familial lecithin-cholesterol acyltransferase: identification of heterozygotes with half-normal enzyme activity and mass.

Authors:  J J Albers; C Chen; J L Adolphson
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

6.  Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1----q22.3 in a patient with tyrosinemia type II.

Authors:  E Natt; E M Westphal; S E Toth-Fejel; R E Magenis; N R Buist; R Rettenmeier; G Scherer
Journal:  Hum Genet       Date:  1987-12       Impact factor: 4.132

Review 7.  Lecithin:cholesterol acyltransferase: old friend or foe in atherosclerosis?

Authors:  Sandra Kunnen; Miranda Van Eck
Journal:  J Lipid Res       Date:  2012-05-07       Impact factor: 5.922

8.  Detection of heterozygotes for familial lecithin: cholesterol acyltransferase (LCAT) deficiency.

Authors:  J Frohlich; K Hon; R McLeod
Journal:  Am J Hum Genet       Date:  1982-01       Impact factor: 11.025

9.  Co-existence of classic familial lecithin-cholesterol acyl transferase deficiency and fish eye disease in the same family.

Authors:  H S Mahapatra; S Ramanarayanan; A Gupta; M Bhardwaj
Journal:  Indian J Nephrol       Date:  2015 Nov-Dec
  9 in total

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