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.
PMID 39055399 | PMCID PMC11270141 | DOI 10.7759/cureus.63088 · Cureus · 2024 · View on PubMed ↗
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.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ABCG5 | “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.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial hypercholesterolemia | “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.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “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. We report a case of a three-year-old Saudi girl who exhibited xanthomas and elevated cholesterol levels.” | 0.95 | saudi_context_rules_v1 |
| variant | c.1800T>A | “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.” | 0.95 | hgvs_regex_v1 |
| variant | c.1336C>T | “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.” | 0.95 | hgvs_regex_v1 |