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

Hum Genome Var. 2020 Sep 14:7:25. doi: 10.1038/s41439-020-00112-y. eCollection 2020.

Authors

Nobuhiro Hashimoto^#¹, Sumito Dateki^#², Eri Suzuki¹, Takatoshi Tsuchihashi^{1

3}, Aiko Isobe¹, Sari Banno¹, Tomoka Kageyama¹, Naonori Maeda¹, Naomi Hatabu¹, Rieko Sato¹, Masashi Miharu¹, Hisayo Fujita¹, Osamu Komiyama¹, Hitomi Shimizu², Tomonobu Hasegawa⁴, Kazuki Yamazawa^{1

5}

Affiliations

¹ Department of Pediatrics, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
² Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
³ Department of Pediatrics, Kawasaki Municipal Hospital, Kanagawa, Japan.
⁴ Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
⁵ Medical Genetics Center, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.

^# Contributed equally.

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.

Keywords: Disease genetics; Dyslipidaemias.