1. Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia.
- Author
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Hashimoto, Nobuhiro, Dateki, Sumito, Suzuki, Eri, Tsuchihashi, Takatoshi, Isobe, Aiko, Banno, Sari, Kageyama, Tomoka, Maeda, Naonori, Hatabu, Naomi, Sato, Rieko, Miharu, Masashi, Fujita, Hisayo, Komiyama, Osamu, Shimizu, Hitomi, Hasegawa, Tomonobu, and Yamazawa, Kazuki
- Subjects
SERUM ,STEROLS ,NUCLEOTIDES ,ATHEROSCLEROSIS ,MISSENSE mutation - 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. [ABSTRACT FROM AUTHOR]
- Published
- 2020
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