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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2020-09-14

AUTHORS

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

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. More... »

PAGES

25

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41439-020-00112-y

DOI

http://dx.doi.org/10.1038/s41439-020-00112-y

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1130823940

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/33014402


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