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

Authors :: Hashimoto N
Dateki S
Suzuki E
Tsuchihashi T
Isobe A
Banno S
Kageyama T
Maeda N
Hatabu N
Sato R
Miharu M
Fujita H
Komiyama O
Shimizu H
Hasegawa T
Yamazawa K
Source :: Human genome variation [Hum Genome Var] 2020 Sep 14; Vol. 7, pp. 25. Date of Electronic Publication: 2020 Sep 14 (Print Publication: 2020).
Publication Year :: 2020
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&#95;1257delTCinsAA (p.Ile419Lys), in the ABCG8 gene in a compound heterozygous state observed in a Japanese girl with sitosterolemia.<br />Competing Interests: Conflict of interestThe authors declare that they have no conflict of interest.<br /> (© The Author(s) 2020.)

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