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Article

Novel pathogenic variant in the LCAT gene in a compound heterozygous patient with fish-eye disease and a mild phenotype.

Journal of clinical lipidology - 1 Jan 2025

Miyata Masaaki, Kuroda Masayuki, Miyoshi Junko, Kirinashizawa Mika, Nagasawa Rora, Yamamoto Misato, Akasaki Yuichi, Utatsu Kensuke, Maezawa Yoshiro, Yokote Koutaro, Ohishi Mitsuru

Abstract excerpt

BACKGROUND AND OBJECTIVE: Low high-density lipoprotein (HDL)-cholesterol and corneal opacity are associated with fish-eye disease (FED), familial lecithin:cholesterol acyltransferase (LCAT) deficiency (FLD), apolipoprotein AI deficiency, and Tangier disease. The differential diagnosis is made by clinical and biochemical tests. Measuring the LCAT activity is the ideal way to distinguish conditions caused by LCAT...

Topics

Humans
Phosphatidylcholine-Sterol O-Acyltransferase
Heterozygote
Lecithin Cholesterol Acyltransferase Deficiency
Phenotype
Female
Male
Adult

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 39537502
DOI: 10.1016/j.jacl.2024.09.013

Genes

LCAT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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Novel pathogenic variant in the LCAT gene in a compound heterozygous patient with fish-eye disease and a mild phenotype.PMID 39537502Read ↗

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