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

Nobuhiro Hashimoto, Sumito Dateki, Eri Suzuki, Takatoshi Tsuchihashi, Aiko Isobe, Sari Banno, Tomoka Kageyama, Naonori Maeda, Naomi Hatabu, Rieko Sato, Masashi Miharu, Hisayo Fujita, Osamu Komiyama, Hitomi Shimizu, Tomonobu Hasegawa, Kazuki Yamazawa

研究成果: Article査読

抄録

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.

本文言語English
論文番号25
ジャーナルHuman Genome Variation
7
1
DOI
出版ステータスPublished - 2020 12 1

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics

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