Document Detail

Molecular diagnosis of lecithin: cholesterol acyltransferase deficiency in a presymptomatic proband.
MedLine Citation:
PMID:  9746267     Owner:  NLM     Status:  MEDLINE    
We report the molecular diagnosis of a lecithin : cholesterol acyltransferase deficiency in a 12-year old proband with a high-density lipoprotein deficiency. The increased percentage of free cholesterol in plasma and high-density lipoprotein indicated an inherited lecithin : cholesterol acyltransferase deficiency as the underlying cause. This diagnosis was confirmed by a low plasma lecithin : cholesterol acyltransferase activity and a combination of genetic analyses which demonstrated compound heterozygosity for two mutations in the lecithin : cholesterol acyltransferase gene of the proband. One was a previously unreported 2 bp deletion leading to a stop signal in codon 77 and the other a point mutation causing Arg 135-->Gln transition. To our knowledge, this is the first diagnosis of lecithin : cholesterol acyltransferase deficiency in a pre-symptomatic patient. Whether the proband will develop signs of complete lecithin : cholesterol acyltransferase deficiency or the milder form (Fish Eye Disease) is uncertain, although the former possibility is more likely. The risk of premature atherosclerosis conferred by lecithin : cholesterol acyltransferase deficiency is not well established. The proband will need to be carefully monitored in the future.
S Cirera; J Julve; I Ferrer; C Mainou; R Bonet; J M Martin-Campos; F González-Sastre; F Blanco-Vaca
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinical chemistry and laboratory medicine : CCLM / FESCC     Volume:  36     ISSN:  1434-6621     ISO Abbreviation:  Clin. Chem. Lab. Med.     Publication Date:  1998 Jun 
Date Detail:
Created Date:  1998-12-03     Completed Date:  1998-12-03     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9806306     Medline TA:  Clin Chem Lab Med     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  443-8     Citation Subset:  IM    
Servei de Bioquímica, Institut de Recerca, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
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MeSH Terms
Cholesterol / blood
DNA Mutational Analysis
Lecithin Acyltransferase Deficiency / blood*,  genetics
Lipids / blood
Lipoproteins, HDL / blood
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Reg. No./Substance:
0/Lipids; 0/Lipoproteins, HDL; 57-88-5/Cholesterol

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