{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:40:55Z","timestamp":1760143255135,"version":"build-2065373602"},"reference-count":26,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2024,1,26]],"date-time":"2024-01-26T00:00:00Z","timestamp":1706227200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Sitosterolemia is a rare genetic lipid disorder characterized by elevated plant sterols in the serum. A 24-year-old Japanese woman was referred to our hospital due to a high serum low-density lipoprotein cholesterol (LDL-C) level of 332 mg\/dL. At first, she was suspected to suffer from familial hypercholesterolemia, and thus received lipid-lowering agents. Although her LDL-C level remained high (220 mg\/dL) with diet therapy plus 10 mg\/day rosuvastatin, it was drastically decreased to 46 mg\/dL with the addition of 10 mg\/day ezetimibe. Finally, her LDL-C level was well-controlled at about 70 mg\/dL with 10 mg\/day ezetimibe alone. Furthermore, while her serum sitosterol level was elevated at 10.5 \u03bcg\/mL during the first visit to our hospital, it decreased to 3.6 \u03bcg\/mL with the 10 mg\/day ezetimibe treatment alone. These observations suggest that she might probably suffer from sitosterolemia. Therefore, targeted gene sequencing analysis was performed using custom panels focusing on the exome regions of 21 lipid-associated genes, including ABCG5, ABCG8, and familial hypercholesterolemia-causing genes (LDL receptor, LDLRAP1, PCSK9, and apolipoprotein B). We finally identified a heterozygous ABCG8 variant (NM_022437.2:c.1285A&gt;G or NP_071882.1:p.Met429Val) in our patient. The same gene mutation was detected in her mother. We report here a rare case exhibiting probable sitosterolemia caused by a heterozygous Met429Val variant in the ABCG8 gene and additional unknown variants.<\/jats:p>","DOI":"10.3390\/ijms25031535","type":"journal-article","created":{"date-parts":[[2024,1,26]],"date-time":"2024-01-26T08:56:01Z","timestamp":1706259361000},"page":"1535","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Clinical Case of Probable Sitosterolemia"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7405-7419","authenticated-orcid":false,"given":"Michishige","family":"Terasaki","sequence":"first","affiliation":[{"name":"Division of Diabetes, Metabolism and Endocrinology, Showa University Graduate School of Medicine, 1-5-8 Shinagawa, Tokyo 142-8666, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mikiko","family":"Izumi","sequence":"additional","affiliation":[{"name":"Center for Clinical Genetics, Showa University Hospital, 1-5-8 Shinagawa, Tokyo 142-8666, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0102-0823","authenticated-orcid":false,"given":"Sho-ichi","family":"Yamagishi","sequence":"additional","affiliation":[{"name":"Division of Diabetes, Metabolism and Endocrinology, Showa University Graduate School of Medicine, 1-5-8 Shinagawa, Tokyo 142-8666, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,1,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1771","DOI":"10.1126\/science.290.5497.1771","article-title":"Accumulation of Dietary Cholesterol in Sitosterolemia Caused by Mutations in Adjacent ABC Transporters","volume":"290","author":"Berge","year":"2000","journal-title":"Science"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"783","DOI":"10.5551\/jat.RV17024","article-title":"Sitosterolemia, Hypercholesterolemia, and Coronary Artery Disease","volume":"25","author":"Tada","year":"2018","journal-title":"J. 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