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.

Details

Title
Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia
Author
Hashimoto Nobuhiro 1 ; Dateki Sumito 2 ; Suzuki, Eri 1 ; Tsuchihashi Takatoshi 3 ; Isobe Aiko 1 ; Banno Sari 1 ; Kageyama Tomoka 1 ; Maeda Naonori 1 ; Hatabu Naomi 1 ; Sato Rieko 1 ; Miharu Masashi 1 ; Fujita Hisayo 1 ; Komiyama Osamu 1 ; Shimizu Hitomi 2 ; Hasegawa Tomonobu 4 ; Yamazawa Kazuki 5   VIAFID ORCID Logo 

1  National Hospital Organization Tokyo Medical Center, Department of Pediatrics, Tokyo, Japan (GRID:grid.416239.b) 
2  Nagasaki University Graduate School of Biomedical Sciences, Department of Pediatrics, Nagasaki, Japan (GRID:grid.174567.6) (ISNI:0000 0000 8902 2273) 
3  National Hospital Organization Tokyo Medical Center, Department of Pediatrics, Tokyo, Japan (GRID:grid.416239.b); Kawasaki Municipal Hospital, Department of Pediatrics, Kanagawa, Japan (GRID:grid.415107.6) (ISNI:0000 0004 1772 6908) 
4  Keio University School of Medicine, Department of Pediatrics, Tokyo, Japan (GRID:grid.26091.3c) (ISNI:0000 0004 1936 9959) 
5  National Hospital Organization Tokyo Medical Center, Department of Pediatrics, Tokyo, Japan (GRID:grid.416239.b); National Hospital Organization Tokyo Medical Center, Medical Genetics Center, Tokyo, Japan (GRID:grid.416239.b) 
Publication year
2020
Publication date
2020
Publisher
Springer Nature B.V.
e-ISSN
2054345X
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.1038/s41439-020-00112-y
ProQuest document ID
2442447890
Copyright
© The Author(s) 2020. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.