Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia.
Nobuhiro HashimotoSumito DatekiEri SuzukiTakatoshi TsuchihashiAiko IsobeSari BannoTomoka KageyamaNaonori MaedaNaomi HatabuRieko SatoMasashi MiharuHisayo FujitaOsamu KomiyamaHitomi ShimizuTomonobu HasegawaKazuki YamazawaPublished in: Human genome variation (2020)
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.