{"@context":{"@vocab":"https://cir.nii.ac.jp/schema/1.0/","rdfs":"http://www.w3.org/2000/01/rdf-schema#","dc":"http://purl.org/dc/elements/1.1/","dcterms":"http://purl.org/dc/terms/","foaf":"http://xmlns.com/foaf/0.1/","prism":"http://prismstandard.org/namespaces/basic/2.0/","cinii":"http://ci.nii.ac.jp/ns/1.0/","datacite":"https://schema.datacite.org/meta/kernel-4/","ndl":"http://ndl.go.jp/dcndl/terms/","jpcoar":"https://github.com/JPCOAR/schema/blob/master/2.0/"},"@id":"https://cir.nii.ac.jp/crid/1360285705357348992.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.1007/8904_2014_404"}},{"identifier":{"@type":"URI","@value":"http://link.springer.com/content/pdf/10.1007/8904_2014_404"}},{"identifier":{"@type":"PMID","@value":"25665839"}}],"resourceType":"学術雑誌論文(journal article)","dc:title":[{"@value":"Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding"}],"description":[{"notation":[{"@value":"Few data exists regarding the clinical impact of breastfeeding in infantile sitosterolaemic cases. We report four Japanese infantile cases of sitosterolaemia, an extremely rare inherited disease characterised by increased serum levels of plant sitosterol, presenting with severe hypercholesterolaemia and systemic xanthomas exacerbated by breastfeeding. In these four cases, genetic analyses were performed for low-density lipoprotein (LDL) receptor, proprotein convertase subtilisin/kexin type 9 (PCSK9), LDL receptor adaptor protein 1 and ATP-binding cassette (ABC) subfamily G member 5 and 8 (ABCG5 and ABCG8) genes. We assessed their clinical manifestations, including responsiveness to a variety of treatments, especially to weaning from breastfeeding and use of ezetimibe. Two pairs of mutations in the ABCG5 gene in each case, including two novel mutations (c.130CT or p.Ser44Ala and c.1813_1817delCTTTT or p.Pro558GlufsX14) and two known mutations (c.1306GA or p.Arg389His and c.1336CT or p.Arg446X), were identified. Significant reductions in cholesterol levels were obtained by means of weaning from breastfeeding alone. Substantial reductions in sitosterol levels, without any apparent side effects, were observed with ezetimibe. In conclusion, we have identified infantile Japanese sitosterolaemic subjects with extreme hypercholesterolaemia exacerbated by breastfeeding. Their unique response to weaning from breastfeeding, as well as to use of ezetimibe, could provide insights into the metabolic basis of sterols in humans."}]}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1380285705357349003","@type":"Researcher","foaf:name":[{"@value":"Hayato Tada"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285705357349120","@type":"Researcher","foaf:name":[{"@value":"Masa-aki Kawashiri"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285705357349122","@type":"Researcher","foaf:name":[{"@value":"Mutsuko Takata"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285705357349001","@type":"Researcher","foaf:name":[{"@value":"Kunihiro Matsunami"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285705357348865","@type":"Researcher","foaf:name":[{"@value":"Atsushi Imamura"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285705357348866","@type":"Researcher","foaf:name":[{"@value":"Misayo Matsuyama"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285705357349124","@type":"Researcher","foaf:name":[{"@value":"Hirotake Sawada"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285705357348870","@type":"Researcher","foaf:name":[{"@value":"Hiroyuki Nunoi"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285705357349123","@type":"Researcher","foaf:name":[{"@value":"Tetsuo Konno"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285705357348741","@type":"Researcher","foaf:name":[{"@value":"Kenshi Hayashi"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285705357348995","@type":"Researcher","foaf:name":[{"@value":"Atsushi Nohara"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285705357348864","@type":"Researcher","foaf:name":[{"@value":"Akihiro Inazu"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285705357348873","@type":"Researcher","foaf:name":[{"@value":"Junji Kobayashi"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285705357348874","@type":"Researcher","foaf:name":[{"@value":"Hiroshi Mabuchi"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285705357348867","@type":"Researcher","foaf:name":[{"@value":"Masakazu Yamagishi"}]}],"publication":{"publicationIdentifier":[{"@type":"PISSN","@value":"21928304"},{"@type":"EISSN","@value":"21928312"},{"@type":"ISBN","@value":"9783662471715"},{"@type":"ISBN","@value":"9783662471722"}],"prism:publicationName":[{"@value":"JIMD Reports"}],"dc:publisher":[{"@value":"Springer Berlin Heidelberg"}],"prism:publicationDate":"2015","prism:volume":"21","prism:startingPage":"115","prism:endingPage":"122"},"reviewed":"false","url":[{"@id":"http://link.springer.com/content/pdf/10.1007/8904_2014_404"}],"createdAt":"2015-02-09","modifiedAt":"2020-08-29","project":[{"@id":"https://cir.nii.ac.jp/crid/1040000782213294848","@type":"Project","projectIdentifier":[{"@type":"KAKEN","@value":"24591041"},{"@type":"JGN","@value":"JP24591041"},{"@type":"URI","@value":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-24591041/"}],"notation":[{"@language":"ja","@value":"家族性高コレステロール血症の新規原因遺伝子が臨床像と生命予後に与える影響"},{"@language":"en","@value":"Impact of novel causal gene mutation of familial hypercholesterolemia on its clinical features and prognosis"}]},{"@id":"https://cir.nii.ac.jp/crid/1040282256827168768","@type":"Project","projectIdentifier":[{"@type":"KAKEN","@value":"15K09118"},{"@type":"JGN","@value":"JP15K09118"},{"@type":"URI","@value":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-15K09118/"}],"notation":[{"@language":"ja","@value":"エクソームシーケンスを用いた新規高比重リポ蛋白代謝制御因子の発見とその機能解析"},{"@language":"en","@value":"Discovery and mechanistic analysis of a novel molecule associated with high-density lipoprotein metabolism using whole exome sequencing"}]}],"relatedProduct":[{"@id":"https://cir.nii.ac.jp/crid/1050564285907153664","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Changes in lipoprotein lipase and endothelial lipase mass in familial hypercholesterolemia during three-drug lipid-lowering combination 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Measurement"}]},{"@id":"https://cir.nii.ac.jp/crid/1390001205108475136","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@language":"en","@value":"Lipoprotein(a): Revisiting a Next Therapeutic Target"},{"@language":"ja","@value":"Lipoprotein(a) in Familial Hypercholesterolemia With Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Gain-of-Function Mutations."},{"@value":"EDITORIAL : Lipoprotein(a) : Revisiting a Next Therapeutic Target"},{"@value":"Lipoprotein(a) in Familial Hypercholesterolemia With Proprotein Convertase Subtilisin/Kexin Type 9 (<i>PCSK9</i>) Gain-of-Function Mutations"}]},{"@id":"https://cir.nii.ac.jp/crid/1390006662423582592","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@language":"en","@value":"How Can We Improve the Diagnosis Rate of Familial Hypercholesterolemia by Amending Diagnosis Criteria?"},{"@value":"Clinical 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outcomes obtained          with colestimide and ezetimibe"},{"@value":"A case of sitosterolemia due to compound heterozygous mutations in ABCG5: Clinical features and treatment outcomes obtained with colestimide and ezetimibe"}]},{"@id":"https://cir.nii.ac.jp/crid/1390282763072779520","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@language":"en","@value":"Post-prandial Remnant Lipoprotein Metabolism in Sitosterolemia"}]},{"@id":"https://cir.nii.ac.jp/crid/1390286426511758080","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@language":"en","@value":"A case of ezetimibe-effective hypercholesterolemia with a novel heterozygous variant in <i>ABCG5</i>"}]},{"@id":"https://cir.nii.ac.jp/crid/1390287462798852608","@type":"Article","resourceType":"学術雑誌論文(journal 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