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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...
| Autores principales: | , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7490419/ https://www.ncbi.nlm.nih.gov/pubmed/33014402 http://dx.doi.org/10.1038/s41439-020-00112-y |
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| author | 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 |
| author_facet | 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 |
| author_sort | Hashimoto, Nobuhiro |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-7490419 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2020 |
| publisher | Nature Publishing Group UK |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-74904192020-10-01 Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia 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 Hum Genome Var Data Report 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. Nature Publishing Group UK 2020-09-14 /pmc/articles/PMC7490419/ /pubmed/33014402 http://dx.doi.org/10.1038/s41439-020-00112-y Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. |
| spellingShingle | Data Report 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 Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia |
| title | Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia |
| title_full | Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia |
| title_fullStr | Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia |
| title_full_unstemmed | Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia |
| title_short | Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia |
| title_sort | compound heterozygous variants in the abcg8 gene in a japanese girl with sitosterolemia |
| topic | Data Report |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7490419/ https://www.ncbi.nlm.nih.gov/pubmed/33014402 http://dx.doi.org/10.1038/s41439-020-00112-y |
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