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

doi:10.1038/s41439-020-00112-y

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

School of Medicine

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

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.

Original language	English
Article number	25
Journal	Human Genome Variation
Volume	7
Issue number	1
DOIs	https://doi.org/10.1038/s41439-020-00112-y
Publication status	Published - 2020 Dec 1

ASJC Scopus subject areas

Biochemistry
Molecular Biology
Genetics

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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. (2020). Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia. Human Genome Variation, 7(1), [25]. https://doi.org/10.1038/s41439-020-00112-y

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 2020, 'Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia', Human Genome Variation, vol. 7, no. 1, 25. https://doi.org/10.1038/s41439-020-00112-y

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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.",

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AU - Hashimoto, Nobuhiro

AU - Dateki, Sumito

AU - Suzuki, Eri

AU - Tsuchihashi, Takatoshi

AU - Isobe, Aiko

AU - Banno, Sari

AU - Kageyama, Tomoka

AU - Maeda, Naonori

AU - Hatabu, Naomi

AU - Sato, Rieko

AU - Miharu, Masashi

AU - Fujita, Hisayo

AU - Komiyama, Osamu

AU - Shimizu, Hitomi

AU - Hasegawa, Tomonobu

AU - Yamazawa, Kazuki

PY - 2020/12/1

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N2 - 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.

AB - 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.

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

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