{"@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/1360004236093548288.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.1136/jnnp-2018-318839"}},{"identifier":{"@type":"URI","@value":"https://syndication.highwire.org/content/doi/10.1136/jnnp-2018-318839"}},{"identifier":{"@type":"PMID","@value":"30257968"}}],"resourceType":"学術雑誌論文(journal article)","dc:title":[{"@value":"Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan"}],"description":[{"type":"abstract","notation":[{"@value":"<jats:sec><jats:title>Objective </jats:title><jats:p>To identify the genetic characteristics in a large-scale of patients with Charcot-Marie-Tooth disease (CMT).</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>From May 2012 to August 2016, we collected 1005 cases with suspected CMT throughout Japan, whereas <jats:italic>PMP22</jats:italic> duplication/deletion were excluded in advance for demyelinating CMT cases. We performed next-generation sequencing targeting CMT-related gene panels using Illumina MiSeq or Ion Proton, then analysed the gene-specific onset age of the identified cases and geographical differences in terms of their genetic spectrum.</jats:p></jats:sec><jats:sec><jats:title>Results </jats:title><jats:p>From 40 genes, we identified pathogenic or likely pathogenic variants in 301 cases (30.0%). The most common causative genes were <jats:italic>GJB1</jats:italic> (n=66, 21.9%), <jats:italic>MFN2</jats:italic> (n=66, 21.9%) and <jats:italic>MPZ</jats:italic> (n=51, 16.9%). In demyelinating CMT, variants were detected in 45.7% cases, and the most common reasons were <jats:italic>GJB1</jats:italic> (40.3%), <jats:italic>MPZ</jats:italic> (27.1%), <jats:italic>PMP22</jats:italic> point mutations (6.2%) and <jats:italic>NEFL</jats:italic> (4.7%). Axonal CMT yielded a relatively lower detection rate (22.9%), and the leading causes, occupying 72.4%, were <jats:italic>MFN2</jats:italic> (37.2%), <jats:italic>MPZ</jats:italic> (9.0%), <jats:italic>HSPB1</jats:italic> (8.3%), <jats:italic>GJB1</jats:italic> (7.7%), <jats:italic>GDAP1</jats:italic> (5.1%) and <jats:italic>MME</jats:italic> (5.1%). First decade of life was found as the most common disease onset period, and early-onset CMT cases were most likely to receive a molecular diagnosis. Geographical distribution analysis indicated distinctive genetic spectrums in different regions of Japan.</jats:p></jats:sec><jats:sec><jats:title>Conclusions </jats:title><jats:p>Our results updated the genetic profile within a large-scale of Japanese CMT cases. Subsequent analyses regarding onset age and geographical distribution advanced our understanding of CMT, which would be beneficial for clinicians.</jats:p></jats:sec>"}]}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1380004236093548291","@type":"Researcher","foaf:name":[{"@value":"Akiko Yoshimura"}]},{"@id":"https://cir.nii.ac.jp/crid/1380004236093548418","@type":"Researcher","foaf:name":[{"@value":"Jun-Hui Yuan"}]},{"@id":"https://cir.nii.ac.jp/crid/1380004236093548420","@type":"Researcher","foaf:name":[{"@value":"Akihiro Hashiguchi"}]},{"@id":"https://cir.nii.ac.jp/crid/1380004236093548293","@type":"Researcher","foaf:name":[{"@value":"Masahiro Ando"}]},{"@id":"https://cir.nii.ac.jp/crid/1380004236093548421","@type":"Researcher","foaf:name":[{"@value":"Yujiro Higuchi"}]},{"@id":"https://cir.nii.ac.jp/crid/1380004236093548295","@type":"Researcher","foaf:name":[{"@value":"Tomonori Nakamura"}]},{"@id":"https://cir.nii.ac.jp/crid/1380004236093548417","@type":"Researcher","foaf:name":[{"@value":"Yuji Okamoto"}]},{"@id":"https://cir.nii.ac.jp/crid/1380004236093548294","@type":"Researcher","foaf:name":[{"@value":"Masanori Nakagawa"}]},{"@id":"https://cir.nii.ac.jp/crid/1420564276189420416","@type":"Researcher","personIdentifier":[{"@type":"KAKEN_RESEARCHERS","@value":"80372803"},{"@type":"NRID","@value":"1000080372803"},{"@type":"NRID","@value":"9000003684878"},{"@type":"NRID","@value":"9000409331249"},{"@type":"NRID","@value":"9000258061189"},{"@type":"NRID","@value":"9000409296720"},{"@type":"NRID","@value":"9000411802238"},{"@type":"NRID","@value":"9000345384204"},{"@type":"NRID","@value":"9000002004199"},{"@type":"NRID","@value":"9000398132734"},{"@type":"NRID","@value":"9000390886687"},{"@type":"NRID","@value":"9000367426104"},{"@type":"NRID","@value":"9000273000116"},{"@type":"NRID","@value":"9000019187704"},{"@type":"NRID","@value":"9000107380811"},{"@type":"NRID","@value":"9000384340470"},{"@type":"NRID","@value":"9000345198835"},{"@type":"NRID","@value":"9000382051266"},{"@type":"NRID","@value":"9000327096939"},{"@type":"NRID","@value":"9000414376460"},{"@type":"NRID","@value":"9000283542012"},{"@type":"NRID","@value":"9000258060335"},{"@type":"NRID","@value":"9000272998115"},{"@type":"NRID","@value":"9000022143867"},{"@type":"NRID","@value":"9000409331243"},{"@type":"NRID","@value":"9000409786085"},{"@type":"NRID","@value":"9000257905065"},{"@type":"NRID","@value":"9000258057966"},{"@type":"NRID","@value":"9000258059028"},{"@type":"NRID","@value":"9000259835182"},{"@type":"NRID","@value":"9000258060727"},{"@type":"NRID","@value":"9000380477580"},{"@type":"NRID","@value":"9000406035933"},{"@type":"NRID","@value":"9000257905245"},{"@type":"NRID","@value":"9000018212842"},{"@type":"NRID","@value":"9000414376370"},{"@type":"NRID","@value":"9000370252600"},{"@type":"NRID","@value":"9000414743862"},{"@type":"NRID","@value":"9000258059955"},{"@type":"NRID","@value":"9000380434376"},{"@type":"NRID","@value":"9000403160122"},{"@type":"NRID","@value":"9000375887030"},{"@type":"NRID","@value":"9000312254320"},{"@type":"NRID","@value":"9000356663585"},{"@type":"RESEARCHMAP","@value":"https://researchmap.jp/read0118590"}],"foaf:name":[{"@value":"Hiroshi Takashima"}]}],"publication":{"publicationIdentifier":[{"@type":"PISSN","@value":"00223050"},{"@type":"EISSN","@value":"1468330X"}],"prism:publicationName":[{"@value":"Journal of Neurology, Neurosurgery & Psychiatry"}],"dc:publisher":[{"@value":"BMJ"}],"prism:publicationDate":"2018-09-26","prism:volume":"90","prism:number":"2","prism:startingPage":"195","prism:endingPage":"202"},"reviewed":"false","dcterms:accessRights":"http://purl.org/coar/access_right/c_abf2","url":[{"@id":"https://syndication.highwire.org/content/doi/10.1136/jnnp-2018-318839"}],"createdAt":"2018-09-27","modifiedAt":"2020-09-25","foaf:topic":[{"@id":"https://cir.nii.ac.jp/all?q=Adult","dc:title":"Adult"},{"@id":"https://cir.nii.ac.jp/all?q=Male","dc:title":"Male"},{"@id":"https://cir.nii.ac.jp/all?q=Adolescent","dc:title":"Adolescent"},{"@id":"https://cir.nii.ac.jp/all?q=HSP27%20Heat-Shock%20Proteins","dc:title":"HSP27 Heat-Shock 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Onset"},{"@id":"https://cir.nii.ac.jp/all?q=Neurogenetics","dc:title":"Neurogenetics"},{"@id":"https://cir.nii.ac.jp/all?q=Child","dc:title":"Child"},{"@id":"https://cir.nii.ac.jp/all?q=Heat-Shock%20Proteins","dc:title":"Heat-Shock Proteins"},{"@id":"https://cir.nii.ac.jp/all?q=Aged","dc:title":"Aged"},{"@id":"https://cir.nii.ac.jp/all?q=Infant,%20Newborn","dc:title":"Infant, Newborn"},{"@id":"https://cir.nii.ac.jp/all?q=Infant","dc:title":"Infant"},{"@id":"https://cir.nii.ac.jp/all?q=Genetic%20Profile","dc:title":"Genetic Profile"},{"@id":"https://cir.nii.ac.jp/all?q=Middle%20Aged","dc:title":"Middle Aged"},{"@id":"https://cir.nii.ac.jp/all?q=Child,%20Preschool","dc:title":"Child, Preschool"},{"@id":"https://cir.nii.ac.jp/all?q=Female","dc:title":"Female"},{"@id":"https://cir.nii.ac.jp/all?q=Gap%20Junction%20beta-1%20Protein","dc:title":"Gap Junction beta-1 Protein"},{"@id":"https://cir.nii.ac.jp/all?q=Myelin%20P0%20Protein","dc:title":"Myelin P0 Protein"},{"@id":"https://cir.nii.ac.jp/all?q=Myelin%20Proteins","dc:title":"Myelin Proteins"},{"@id":"https://cir.nii.ac.jp/all?q=Molecular%20Chaperones","dc:title":"Molecular Chaperones"}],"project":[{"@id":"https://cir.nii.ac.jp/crid/1040000781993388032","@type":"Project","projectIdentifier":[{"@type":"KAKEN","@value":"18H02742"},{"@type":"JGN","@value":"JP18H02742"},{"@type":"URI","@value":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-18H02742/"}],"notation":[{"@language":"ja","@value":"Charcot-Marie-Tooth病の分子遺伝学的アプローチによる病態解明"},{"@language":"en","@value":"Elucidation of pathology by molecular genetic approach in Charcot-Marie-Tooth disease"}]}],"relatedProduct":[{"@id":"https://cir.nii.ac.jp/crid/1050851165501804032","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@language":"en","@value":"Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic 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