{"created":"2023-07-25T08:13:39.086342+00:00","id":14531,"links":{},"metadata":{"_buckets":{"deposit":"41406fdf-6edf-45b8-ae18-31921be85736"},"_deposit":{"created_by":18,"id":"14531","owners":[18],"pid":{"revision_id":0,"type":"depid","value":"14531"},"status":"published"},"_oai":{"id":"oai:ir.kagoshima-u.ac.jp:00014531","sets":["57:86"]},"author_link":["132658"],"item_5_biblio_info_5":{"attribute_name":"収録雑誌名","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2019","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"2","bibliographicPageEnd":"202","bibliographicPageStart":"195","bibliographicVolumeNumber":"90","bibliographic_titles":[{"bibliographic_title":"Journal of  Neurology, Neurosurgery & Psychiatry","bibliographic_titleLang":"en"}]}]},"item_5_date_granted_54":{"attribute_name":"学位授与年月日 ","attribute_value_mlt":[{"subitem_dategranted":"2019-01-20"}]},"item_5_degree_grantor_53":{"attribute_name":"学位授与機関","attribute_value_mlt":[{"subitem_degreegrantor":[{"subitem_degreegrantor_language":"ja","subitem_degreegrantor_name":"鹿児島大学"}],"subitem_degreegrantor_identifier":[{"subitem_degreegrantor_identifier_name":"17701","subitem_degreegrantor_identifier_scheme":"kakenhi"}]}]},"item_5_degree_name_42":{"attribute_name":"学位名","attribute_value_mlt":[{"subitem_degreename":"博士(医学)","subitem_degreename_language":"ja"},{"subitem_degreename":"Doctor of Philosophy in Medical Science","subitem_degreename_language":"en"}]},"item_5_description_17":{"attribute_name":"ファイル（説明）","attribute_value_mlt":[{"subitem_description":"博士論文本文, 最終試験結果の要旨, 論文審査の要旨, 博士論文要旨","subitem_description_language":"ja","subitem_description_type":"Other"}]},"item_5_description_4":{"attribute_name":"要約(Abstract)","attribute_value_mlt":[{"subitem_description":"Objective: To identify the genetic characteristics in a large-scale of patients with Charcot-Marie-Tooth disease (CMT) patients.\nMethods: From May 2012 to August 2016, we collected 1005 cases with suspected CMT throughout Japan, whereas PMP22 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 analyzed the gene-specific onset age of the identified cases and geographical differences in terms of their genetic spectrum.\nResults: From 40 genes, we identified pathogenic or likely pathogenic variants in 301 cases (30.0%). The most common causative genes were GJB1 (n = 66, 21.9%), MFN2 (n = 66, 21.9%), and MPZ (n = 51, 16.9%). In demyelinating CMT, variants were detected in 45.7% cases, and the most common reasons were GJB1 (40.3%), MPZ (27.1%), PMP22 point mutations (6.2%), and NEFL (4.7%). Axonal CMT yielded a relatively lower detection rate (22.9%), and the leading causes, occupying 72.4%, were MFN2 (37.2%), MPZ (9.0%), HSPB1 (8.3%), GJB1 (7.7%), GDAP1 (5.1%), and MME (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 1 diagnosis. Geographical distribution analysis indicated distinctive genetic spectrums in different regions of Japan.\nConclusions: 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.\n\nThis article has been accepted for publication in Journal of  Neurology, Neurosurgery & Psychiatry, 2019 following peer review, and the Version of Record can be accessed online at http://dx.doi.org/10.1136/jnnp-2018-318839.","subitem_description_language":"en","subitem_description_type":"Other"}]},"item_5_dissertation_number_55":{"attribute_name":"学位授与番号","attribute_value_mlt":[{"subitem_dissertationnumber":"甲総研第490号"}]},"item_5_publisher_23":{"attribute_name":"公開者・出版者","attribute_value_mlt":[{"subitem_publisher":"鹿児島大学","subitem_publisher_language":"ja"},{"subitem_publisher":"カゴシマ ダイガク","subitem_publisher_language":"ja-Kana"},{"subitem_publisher":"BMJ Publishing Group","subitem_publisher_language":"en"}]},"item_5_relation_11":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_type_id":{"subitem_relation_type_id_text":"10.1136/jnnp-2018-318839","subitem_relation_type_select":"DOI"}}]},"item_5_relation_13":{"attribute_name":"情報源","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"Journal of  Neurology, Neurosurgery & Psychiatry"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://jnnp.bmj.com/","subitem_relation_type_select":"URI"}}]},"item_5_subject_15":{"attribute_name":"NDC","attribute_value_mlt":[{"subitem_subject":"492","subitem_subject_scheme":"NDC"}]},"item_5_text_44":{"attribute_name":"備考","attribute_value_mlt":[{"subitem_text_value":"【指導教員:髙嶋博】"}]},"item_5_text_47":{"attribute_name":"date.appl","attribute_value_mlt":[{"subitem_text_value":"【学位申請日】2018/11/7"}]},"item_5_version_type_14":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_access_right":{"attribute_name":"アクセス権","attribute_value_mlt":[{"subitem_access_right":"open access","subitem_access_right_uri":"http://purl.org/coar/access_right/c_abf2"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorAffiliations":[{"affiliationNameIdentifiers":[{}],"affiliationNames":[{}]}],"creatorNames":[{"creatorName":"吉村, 明子","creatorNameLang":"ja"},{"creatorName":"ヨシムラ, アキコ","creatorNameLang":"ja-Kana"},{"creatorName":"Yoshimura, Akiko","creatorNameLang":"en"}],"familyNames":[{},{},{}],"givenNames":[{},{},{}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2019-02-18"}],"displaytype":"detail","filename":"Diss_吉村_明子_ISK490_2018.pdf","filesize":[{"value":"2.3 MB"}],"format":"application/pdf","licensetype":"license_11","mimetype":"application/pdf","url":{"label":"Diss_吉村_明子_ISK490_2018","objectType":"fulltext","url":"https://ir.kagoshima-u.ac.jp/record/14531/files/Diss_吉村_明子_ISK490_2018.pdf"},"version_id":"455a7f29-aff0-4883-9eba-1b12b3253cee"},{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2019-01-28"}],"displaytype":"detail","filename":"Result_Yoshimura_Akiko_isk_490_2019.pdf","filesize":[{"value":"1.0 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"Result_Yoshimura_Akiko_isk_490_2019","objectType":"other","url":"https://ir.kagoshima-u.ac.jp/record/14531/files/Result_Yoshimura_Akiko_isk_490_2019.pdf"},"version_id":"9c910ddd-73ce-4373-9c83-bb836021e654"},{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2019-01-28"}],"displaytype":"detail","filename":"Comments_Yoshimura_Akiko_isk_490_2019.pdf","filesize":[{"value":"473.0 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"Comments_Yoshimura_Akiko_isk_490_2019","objectType":"other","url":"https://ir.kagoshima-u.ac.jp/record/14531/files/Comments_Yoshimura_Akiko_isk_490_2019.pdf"},"version_id":"c91e5e0f-0881-4903-83b9-b8ab2f53515a"},{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2019-02-18"}],"displaytype":"detail","filename":"Abstract_吉村_明子_4514810282_2018.pdf","filesize":[{"value":"72.0 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"Abstract_吉村_明子_4514810282_2018","objectType":"abstract","url":"https://ir.kagoshima-u.ac.jp/record/14531/files/Abstract_吉村_明子_4514810282_2018.pdf"},"version_id":"75ae5b72-fd49-4333-a94d-dbeea32d84ff"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"Charcot-Marie-Tooth disease","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Molecular epidemiology","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"next generation sequencing","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Gene panel","subitem_subject_language":"en","subitem_subject_scheme":"Other"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"eng"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"doctoral thesis","resourceuri":"http://purl.org/coar/resource_type/c_db06"}]},"item_title":"Genetic Profile and Onset Features of 1,005 Patients with Charcot-Marie-Tooth disease in Japan","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Genetic Profile and Onset Features of 1,005 Patients with Charcot-Marie-Tooth disease in Japan","subitem_title_language":"en"},{"subitem_title":"日本におけるCharcot-Marie-Tooth病患者1,005人の遺伝的プロファイルと発症特性","subitem_title_language":"ja"}]},"item_type_id":"5","owner":"18","path":["86"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2019-01-28"},"publish_date":"2019-01-28","publish_status":"0","recid":"14531","relation_version_is_last":true,"title":["Genetic Profile and Onset Features of 1,005 Patients with Charcot-Marie-Tooth disease in Japan"],"weko_creator_id":"18","weko_shared_id":-1},"updated":"2024-01-09T01:48:59.423243+00:00"}