Key result
Severe hypocholesterolemia in a kindred with familial hypobetalipoproteinemia resulted from a compound heterozygous state involving a novel truncated variant (apoB-61) and a second defective apoB allele.
Case Report
Severe hypolipidemia in individuals heterozygous for an apoB truncation is likely to involve a second genomic defect, such as a compound heterozygous state.
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New apoB-61 truncation reported in asymptomatic FHB; leaves open its prevalence, mechanisms, and clinical relevance.
Pullinger et al. (1992) conducted a case report in Familial hypobetalipoproteinemia. Apolipoprotein B gene defects (apoB-61 mutation and a second defective apoB allele) was evaluated on Genetic characterization and lipid levels. Severe hypocholesterolemia in a kindred with familial hypobetalipoproteinemia resulted from a compound heterozygous state involving a novel truncated variant (apoB-61) and a second defective apoB allele.
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