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

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 pop...

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Published inHuman genome variation Vol. 7; no. 1; p. 25
Main Authors Hashimoto, Nobuhiro, Dateki, Sumito, Suzuki, Eri, Tsuchihashi, Takatoshi, Isobe, Aiko, Banno, Sari, Kageyama, Tomoka, Maeda, Naonori, Hatabu, Naomi, Sato, Rieko, Miharu, Masashi, Fujita, Hisayo, Komiyama, Osamu, Shimizu, Hitomi, Hasegawa, Tomonobu, Yamazawa, Kazuki
Format Journal Article
LanguageEnglish
Published London Nature Publishing Group UK 14.09.2020
Springer Nature B.V
Subjects
692/163/2743/2099
692/420/2489/144
Biomedical and Life Sciences
Biomedicine
Cholesterol
Data Report
Families & family life
Gene Expression
Gene Function
Gene Therapy
Genetics
Genomes
Human Genetics
Molecular Medicine
Pediatrics
Population
Sterols
Dyslipidaemias
Disease genetics
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Summary: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.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:2054-345X
2054-345X
DOI:10.1038/s41439-020-00112-y