Article
Genetic analysis and functional study of a novel ABCG5 mutation in sitosterolemia with hematologic disease.
Gene - 30 Aug 2023
Jiang Wanzi, Xu Yiwen, Fu Zhenzhen, Hu Moran, Wu Qinyi, Ji Yong, Li John Zhong, Gong Yingyun, Zhou Hongwen
Abstract excerpt
Sitosterolemia is a rare autosomal recessive hereditary disease caused by loss-of-function genetic mutations in either ATP-binding cassette subfamily G member 5 or member 8 (ABCG5 or ABCG8). Here, we investigate novel variants in ABCG5 and ABCG8 that are associated with the sitosterolemia phenotype. We describe a 32-year-old woman with hypercholesterolemia, tendon and hip xanthomas, autoimmune hemolytic anemia...
Topics
- Lipoproteins
- Adult
- Hypercholesterolemia
- Female
- Mutation
- Thrombocytopenia
- Intestinal Diseases
- Phytosterols
- Lipid Metabolism, Inborn Errors
- Humans
- ATP Binding Cassette Transporter, Subfamily G, Member 5