{"@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/1050870164069817600.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"HDL","@value":"http://hdl.handle.net/10458/0002002282"}},{"identifier":{"@type":"URI","@value":"https://miyazaki-u.repo.nii.ac.jp/records/2002282"}}],"resourceType":"学術雑誌論文(journal article)","dc:title":[{"@language":"en","@value":"Genetic and structural changes leading to symptomatic Currarino syndrome – case presentation with re-analyzation of 102 cases of MNX1 genetic change"}],"dc:language":"en","description":[{"type":"Abstract","notation":[{"@language":"en","@value":"Currarino syndrome is a rare congenital disorder characterized by a triad of presacral mass, sacral agenesis, and anorectal malformation. We report a case of Currarino syndrome with heterozygous in-frame deletion in homeobox of MNX1 gene. Currarino syndrome is an autosomal-dominant inheritance, and many cases of MNX1 mutations have been reported, but there are no reports of symptomatic with heterozygous in-frame deletions in sporadic cases. We downloaded the MNX1 data from open database ClinVar-NCBI. After adding seven literature reports not included in the database with present case, we re-analyzed the mutation type, location and symptoms. Among 81 cases with gene mutations upstream of homeobox, structural changes in homeobox were observed in 39 of 41 symptomatic cases (95.1%), while in only 1 of 40 asymptomatic cases (2.5%). This finding indicates that structural changes in the homeobox of the MNX1 gene are significantly involved in whether Currarino syndrome becomes symptomatic."}]}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1410024013997329540","@type":"Researcher","personIdentifier":[{"@type":"KAKEN_RESEARCHERS","@value":"30840699"},{"@type":"NRID","@value":"1000030840699"}],"foaf:name":[{"@language":"ja","@value":"奥山, 洋信"},{"@language":"ja-Kana","@value":"オクヤマ, ヒロノブ"},{"@language":"en","@value":"Okuyama, Hironobu"}],"jpcoar:affiliationName":[{"@language":"ja","@value":"宮崎大学"},{"@language":"en","@value":"University of Miyazaki"}]},{"@id":"https://cir.nii.ac.jp/crid/1420001326231462912","@type":"Researcher","personIdentifier":[{"@type":"KAKEN_RESEARCHERS","@value":"40284856"},{"@type":"NRID","@value":"1000040284856"},{"@type":"NRID","@value":"9000003602468"},{"@type":"NRID","@value":"9000002831195"},{"@type":"NRID","@value":"9000398985915"},{"@type":"NRID","@value":"9000254192775"},{"@type":"NRID","@value":"9000286636131"}],"foaf:name":[{"@language":"ja","@value":"横上, 聖貴"},{"@language":"ja-Kana","@value":"ヨコガミ, キヨタカ"},{"@language":"en","@value":"Yokogami, Kiyotaka"}],"jpcoar:affiliationName":[{"@language":"ja","@value":"宮崎大学"},{"@language":"en","@value":"University of Miyazaki"}]},{"@id":"https://cir.nii.ac.jp/crid/1420564276163065344","@type":"Researcher","personIdentifier":[{"@type":"KAKEN_RESEARCHERS","@value":"40468046"},{"@type":"NRID","@value":"1000040468046"}],"foaf:name":[{"@language":"ja","@value":"山下, 真治"},{"@language":"ja-Kana","@value":"ヤマシタ, シンジ"},{"@language":"en","@value":"Yamashita, Shinji"}],"jpcoar:affiliationName":[{"@language":"ja","@value":"宮崎大学"},{"@language":"en","@value":"University of Miyazaki"}]},{"@id":"https://cir.nii.ac.jp/crid/1420564276159750144","@type":"Researcher","personIdentifier":[{"@type":"KAKEN_RESEARCHERS","@value":"10533797"},{"@type":"NRID","@value":"1000010533797"},{"@type":"NRID","@value":"9000018228514"},{"@type":"NRID","@value":"9000414337413"},{"@type":"NRID","@value":"9000410319678"},{"@type":"NRID","@value":"9000258608131"},{"@type":"NRID","@value":"9000020385616"},{"@type":"NRID","@value":"9000022068903"},{"@type":"NRID","@value":"9000382672719"},{"@type":"NRID","@value":"9000290820388"},{"@type":"NRID","@value":"9000253112492"},{"@type":"NRID","@value":"9000243902659"},{"@type":"NRID","@value":"9000258608146"},{"@type":"RESEARCHMAP","@value":"https://researchmap.jp/yoshiko_okita"}],"foaf:name":[{"@language":"ja","@value":"沖田, 典子"},{"@language":"ja-Kana","@value":"オキタ, ヨシコ"},{"@language":"en","@value":"Okita, Yoshiko"}],"jpcoar:affiliationName":[{"@language":"ja","@value":"宮崎大学"},{"@language":"en","@value":"University of Miyazaki"}]}],"publication":{"publicationIdentifier":[{"@type":"EISSN","@value":"2772736X"}],"prism:publicationName":[{"@language":"en","@value":"Human Pathology Reports"}],"dc:publisher":[{"@value":"Elsevier BV"}],"prism:publicationDate":"2025-12-12","prism:volume":"43","prism:startingPage":"300809"},"dcterms:accessRights":"http://purl.org/coar/access_right/c_abf2","dc:rights":["© 2025 The Author(s)."],"url":[{"@id":"https://miyazaki-u.repo.nii.ac.jp/records/2002282"}],"foaf:topic":[{"@id":"https://cir.nii.ac.jp/all?q=Currarino%20syndrome","dc:title":"Currarino syndrome"},{"@id":"https://cir.nii.ac.jp/all?q=Homeobox","dc:title":"Homeobox"},{"@id":"https://cir.nii.ac.jp/all?q=MNX1","dc:title":"MNX1"}],"dcterms:subject":[{"subjectScheme":"Other","notation":[{"@language":"en","@value":"Currarino syndrome"}]},{"subjectScheme":"Other","notation":[{"@language":"en","@value":"Homeobox"}]},{"subjectScheme":"Other","notation":[{"@language":"en","@value":"MNX1"}]}],"dataSourceIdentifier":[{"@type":"IRDB","@value":"oai:irdb.nii.ac.jp:00851:0007254499"}]}