Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia.

ABSTRACT: 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.

SUBMITTER: Hashimoto N 

PROVIDER: S-EPMC7490419 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature