Sitosterolemia is an autosomal recessive disorder that affects lipid metabolism and is characterized by elevated serum plant sterol levels, xanthomas, and accelerated atherosclerosis. In this study, we report a novel nonsense single-nucleotide variant, c.225G > A (p.Trp75*), and an East Asian population-specific missense multiple-nucleotide variant, c.1256_1257delTCinsAA (p.Ile419Lys), in the ABCG8 gene in a compound heterozygous state observed in a Japanese girl with sitosterolemia.

中文翻译：

---

一名患有谷甾醇血症的日本女孩的 ABCG8 基因复合杂合变异

谷甾醇血症是一种影响脂质代谢的常染色体隐性遗传疾病，其特征是血清植物甾醇水平升高、黄色瘤和加速动脉粥样硬化。在这项研究中，我们报告了一种新型无义单核苷酸变异 c.225G > A (p.Trp75*) 和一种东亚人群特异性错义多核苷酸变异 c.1256_1257delTCinsAA (p.Ile419Lys)。在一名患有谷甾醇血症的日本女孩中观察到处于复合杂合状态的ABCG8基因。