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

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.

SUBMITTER: Hashimoto N

PROVIDER: S-EPMC7490419 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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

Hashimoto Nobuhiro N Dateki Sumito S Suzuki Eri E Tsuchihashi Takatoshi T Isobe Aiko A Banno Sari S Kageyama Tomoka T Maeda Naonori N Hatabu Naomi N Sato Rieko R Miharu Masashi M Fujita Hisayo H Komiyama Osamu O Shimizu Hitomi H Hasegawa Tomonobu T Yamazawa Kazuki K

Human genome variation 20200914

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. ...[more]

PMID: 33014402

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