Document Detail

A first British case of fish-eye disease presenting at age 75 years: a double heterozygote for defined and new mutations affecting LCAT structure and expression.
MedLine Citation:
PMID:  10450185     Owner:  NLM     Status:  MEDLINE    
Fish-eye disease is a familial syndrome with corneal opacification, major high density lipoprotein (HDL) deficiency in plasma, significant cholesterol esterification in plasma on non-HDL lipoproteins, generally without premature coronary disease. This first British male case from unrelated British parents had infarcts when aged 49 and 73 years but was asymptomatic at age 81 years, with plasma cholesterol 4.3-7.1 mmol/litre, triglycerides 1.8-2.2 mmol/litre, HDL cholesterol < 0.1 mmol/litre, apolipoprotein A-I < 0.16 g/litre, lipoprotein(a) 0.61 g/litre. Cholesterol esterification was impaired using HDL-3 and A-I proteoliposomes but not using VLDL/IDL/LDL. The findings are those of LCAT deficiency with the classic fish-eye disease defect. Most of the 22 reported cases were homozygous or heterozygous for a Thr-Ile mutation at codon 123 of the lecithin:cholesterol acyltransferase (LCAT) gene. This patient was a double heterozygote for this mutation and a second new incompletely defined mutation affecting LCAT expression as defined by reduced mass and activity in plasma.
A F Winder; J S Owen; P H Pritchard; D Lloyd-Jones; D T Vallance; P White; R Wray
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of clinical pathology     Volume:  52     ISSN:  0021-9746     ISO Abbreviation:  J. Clin. Pathol.     Publication Date:  1999 Mar 
Date Detail:
Created Date:  1999-08-26     Completed Date:  1999-08-26     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0376601     Medline TA:  J Clin Pathol     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  228-30     Citation Subset:  AIM; IM    
University Department of Molecular Pathology and Clinical Biochemistry, Royal Free and University College School of Medicine, London, UK.
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MeSH Terms
Aged, 80 and over
Apolipoprotein A-I / analysis
Cholesterol / blood
Cholesterol, HDL / blood
Cornea / pathology
Corneal Opacity / enzymology*,  epidemiology,  genetics
Gene Expression / genetics
Great Britain / epidemiology
Lecithin Acyltransferase Deficiency / blood,  genetics*
Myocardial Infarction / enzymology*,  epidemiology,  genetics
Phosphatidylcholine-Sterol O-Acyltransferase / genetics*
Triglycerides / blood
Reg. No./Substance:
0/Apolipoprotein A-I; 0/Cholesterol, HDL; 0/Triglycerides; 57-88-5/Cholesterol; EC O-Acyltransferase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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