ArticleCureus2024
Sitosterolemia With Two Heterozygous Variants Including a Novel Mutation c.1800T>A in the ABCG5 Gene: A Case Report of a Rare Condition in a Young Saudi Girl.
Article in Cureus, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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1 citing paper in PubMed.
- Genome sequencing identifies uniparental isodisomy of chromosome 2p and a homozygousBiomedical reports · 2025Article
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Abstract
Sitosterolemia is a rare autosomal recessively inherited lipid disorder characterized by an accumulation and deposition of phytosterols in various tissues with decreased biliary excretion leading to various complications. We report a case of a three-year-old Saudi girl who exhibited xanthomas and elevated cholesterol levels. Initially, she was misdiagnosed with familial hypercholesterolemia, but subsequent testing of the low-density lipoprotein receptor gene by next-generation sequencing ruled out this condition. Two heterozygous variants were identified in the ABCG5 gene through a whole exome sequencing study. These variants, namely c.1336C>T and c.1800T>A, have been characterized as pathogenic and likely pathogenic, respectively, with the latter being a novel mutation associated with sitosterolemia. The patient responded positively to treatment with ezetimibe, resulting in controlled cholesterol levels and decreased xanthoma size.
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