Two novel variants in the lecithin:cholesterol acyltransferase gene resulted in classic LCAT deficiency

Margareta Fistrek Prlic,Marijana Coric,Laura Calabresi,Chiara Pavanello,Lorena Mosca,Ugo Cavallari,Ivana Vukovic Brinar,Sandra Karanovic,Mario Laganovic,Bojan Jelakovic

Atherosclerosis Plus（2022）

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摘要

•A 30-year-old man presents with nephrotic syndrome and corneal opacities.•Dyslipidemia with very low high-density lipoprotein cholesterol level is determined.•Analysis confirms absent lechitin:cholesterol acyltransferase activity.•Genetic analysis confirms the diagnosis with the two novel gene variants.

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LCAT deficiency,Nephrotic syndrome,Gene variants,LCAT gene

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