A unique genetic and biochemical presentation of fish-eye disease.
作者： J A Kuivenhoven , E J van Voorst tot Voorst , H Wiebusch , S M Marcovina , H Funke
DOI: 10.1172/JCI118348
关键词:
摘要: This paper describes a novel genetic defect which causes fish-eye disease in four homozygous probands and its biochemical presentation 34 heterozygous siblings. The male index patient presented with premature coronary artery disease, corneal opacification, HDL deficiency, near total loss of plasma lecithin:cholesterol acyltransferase (LCAT) activity. Sequencing the LCAT gene revealed homozygosity for missense mutation resulting an Asp131 - Asn (N131D) substitution. Heterozygotes showed highly significant reduction HDL-cholesterol apolipoprotein A-I levels as compared controls was associated specific decrease LpA-I:A-II particles. Functional assessment this activity recombinant LCAT(N131D) against proteoliposomes. Unlike other mutations causing also 75% LDL. These unique characteristics reveal heterogeneity phenotypic expression defects within range specified by complete HDL. impact on subclass distribution may be related to observed probands.
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