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Article

A unique genetic and biochemical presentation of fish-eye disease.

The Journal of clinical investigation - 1 Dec 1995

Kuivenhoven J A, van Voorst tot Voorst E J, Wiebusch H, Marcovina S M, Funke H, Assmann G, Pritchard P H, Kastelein J J

Abstract excerpt

This paper describes a novel genetic defect which causes fish-eye disease in four homozygous probands and its biochemical presentation in 34 heterozygous siblings. The male index patient presented with premature coronary artery disease, corneal opacification, HDL deficiency, and a near total loss of plasma lecithin:cholesterol acyltransferase (LCAT) activity. Sequencing of the LCAT gene revealed homozygosity for...

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Identifiers

PMID: 8675648
DOI: 10.1172/JCI118348
PMCID: PMC185988

Genes

LCAT

Variants

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A unique genetic and biochemical presentation of fish-eye disease.PMID 8675648Read ↗

Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease.Semantic proximity Read ↗

A new molecular defect in the lecithin: cholesterol acyltransferase (LCAT) gene associated with fish eye disease.Semantic proximity Read ↗

The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes.Semantic proximity Read ↗

A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Lecithin: cholesterol acyltransferase deficiency and fish-eye diseaseSemantic proximity Read ↗

Two novel molecular defects in the LCAT gene are associated with fish eye disease.Semantic proximity Read ↗

LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred.Semantic proximity Read ↗

Fish eye syndrome: a molecular defect in the lecithin-cholesterol acyltransferase (LCAT) gene associated with normal alpha-LCAT-specific activity. Implications for classification and prognosis.Semantic proximity Read ↗

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

Relationship between structure and biochemical phenotype of lecithin:cholesterol acyltransferase (LCAT) mutants causing fish-eye disease.Semantic proximity Read ↗

The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families.Semantic proximity Read ↗

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