{"created":"2023-07-25T08:14:03.087875+00:00","id":14992,"links":{},"metadata":{"_buckets":{"deposit":"e76f7656-9b17-4f52-a505-fa308a23a875"},"_deposit":{"created_by":18,"id":"14992","owners":[18],"pid":{"revision_id":0,"type":"depid","value":"14992"},"status":"published"},"_oai":{"id":"oai:ir.kagoshima-u.ac.jp:00014992","sets":["57:86"]},"author_link":["134816"],"item_5_biblio_info_5":{"attribute_name":"収録雑誌名","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2020","bibliographicIssueDateType":"Issued"},"bibliographicPageEnd":"63","bibliographicPageStart":"58","bibliographicVolumeNumber":"157","bibliographic_titles":[{"bibliographic_title":"Neuroscience Research","bibliographic_titleLang":"en"}]}]},"item_5_date_6":{"attribute_name":"作成日","attribute_value_mlt":[{"subitem_date_issued_datetime":"2020-01-14","subitem_date_issued_type":"Collected"}]},"item_5_date_granted_54":{"attribute_name":"学位授与年月日 ","attribute_value_mlt":[{"subitem_dategranted":"2020-01-28"}]},"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":"博士論文全文, 博士論文要旨, 最終試験結果の要旨, 論文審査の要旨","subitem_description_language":"ja","subitem_description_type":"Other"}]},"item_5_description_4":{"attribute_name":"要約(Abstract)","attribute_value_mlt":[{"subitem_description":"Chronic progressive external ophthalmoplegia (CPEO) is one of the most common mitochondrial disorders. It is characterized by bilateral, slowly progressing loss of extraocular muscle mobility, orbicularis oculi weakness, ptosis and other neuromuscular symptoms, which are caused by the accumulation of multiple mitochondrial DNA (mtDNA) deletions. Many mutations in different nuclear genes, such as POLG1, POLG2, ANT1, and others, have been described as causing autosomal-inherited CPEO with multiple mtDNA deletions. Most causative genes are involved in mtDNA replication impairment. Here, we report a family with CPEO-like symptoms characterized by multiple muscle mtDNA deletions, ptosis, diabetes, hearing loss, mental retardation, and emotional instability. We performed genetic analyses to identify nuclear gene mutations in the family. DNA from the proband was analyzed by whole-exome sequencing. In addition to possible pathogenic mutations, rare variants were prioritized for gene-functional phenotype interpretation. We found possible pathogenetic mutations in the PRIMPOL, BRCA1, CPT2, and GJB2 genes, and functional polymorphisms in the CARD8, and MEFV genes. Multiple functional polymorphism and possible pathogenic mutations may contribute to mitochondrialdisease-like phenotypes in a composite manner.\n\n\nKei Kasamo, Masayuki Nakamura, Yoko Daimou, Akira Sano\nA PRIMPOL mutation and variants in multiple genes may contribute to phenotypes in a familial case with chronic progressive external ophthalmoplegia symptoms\nNeuroscience Research, 157, 58-63, (2020)\nDOI:https://doi.org/10.1016/j.neures.2019.07.006","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531号"}]},"item_5_publisher_23":{"attribute_name":"公開者・出版者","attribute_value_mlt":[{"subitem_publisher":"Elsevier","subitem_publisher_language":"en"},{"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"}]},"item_5_relation_11":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_type_id":{"subitem_relation_type_id_text":"10.1016/j.neures.2019.07.006","subitem_relation_type_select":"DOI"}}]},"item_5_subject_15":{"attribute_name":"NDC","attribute_value_mlt":[{"subitem_subject":"490","subitem_subject_scheme":"NDC"}]},"item_5_text_44":{"attribute_name":"備考","attribute_value_mlt":[{"subitem_text_value":"【指導教員:浅川明弘】 "}]},"item_5_text_47":{"attribute_name":"date.appl","attribute_value_mlt":[{"subitem_text_value":"【学位申請日】2019-09-04"}]},"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":[{"creatorNames":[{"creatorName":"笠毛, 渓","creatorNameLang":"ja"},{"creatorName":"カサモ, ケイ","creatorNameLang":"ja-Kana"},{"creatorName":"Kasamo, Kei","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"134816","nameIdentifierScheme":"WEKO"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2020-12-03"}],"displaytype":"detail","filename":"Diss_笠毛_渓_ISK531_2019.pdf","filesize":[{"value":"2.1 MB"}],"format":"application/pdf","licensetype":"license_11","mimetype":"application/pdf","url":{"label":"Diss_笠毛_渓_ISK531_2019","objectType":"fulltext","url":"https://ir.kagoshima-u.ac.jp/record/14992/files/Diss_笠毛_渓_ISK531_2019.pdf"},"version_id":"def9c186-1d22-499b-93de-56f51c5569a6"},{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2020-12-03"}],"displaytype":"detail","filename":"Abstract_笠毛_渓_4509800131_2019.pdf","filesize":[{"value":"81.0 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"Abstract_笠毛_渓_4509800131_2019","objectType":"abstract","url":"https://ir.kagoshima-u.ac.jp/record/14992/files/Abstract_笠毛_渓_4509800131_2019.pdf"},"version_id":"a1af5b37-5cfc-4222-aa05-db217cf912fa"},{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2020-03-13"}],"displaytype":"detail","filename":"Result_Kasamo_Kei_isk_531.pdf","filesize":[{"value":"542.8 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"Result_Kasamo_Kei_isk_531","objectType":"other","url":"https://ir.kagoshima-u.ac.jp/record/14992/files/Result_Kasamo_Kei_isk_531.pdf"},"version_id":"fc17a117-4b3a-4e45-9de8-e6f6f4536a7c"},{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2020-03-13"}],"displaytype":"detail","filename":"Comments_Kasamo_Kei_isk_531.pdf","filesize":[{"value":"236.2 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"Comments_Kasamo_Kei_isk_531","objectType":"other","url":"https://ir.kagoshima-u.ac.jp/record/14992/files/Comments_Kasamo_Kei_isk_531.pdf"},"version_id":"a78a719e-d1dc-41bc-be65-69d11eb9c92b"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"Progressive external ophthalmoplegia","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Multiple mitochondrial DNA deletions","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Whole-exome sequencing","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"PRIMPOL","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":"A PRIMPOL mutation and variants in multiple genes may contribute to phenotypes in a familial case with chronic progressive external ophthalmoplegia symptoms","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"A PRIMPOL mutation and variants in multiple genes may contribute to phenotypes in a familial case with chronic progressive external ophthalmoplegia symptoms","subitem_title_language":"en"},{"subitem_title":"PRIMPOL変異と複数の遺伝子バリアントが表現型に関与すると考えられた慢性進行性外眼筋麻痺症候を呈した家系","subitem_title_language":"ja"}]},"item_type_id":"5","owner":"18","path":["86"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2020-03-13"},"publish_date":"2020-03-13","publish_status":"0","recid":"14992","relation_version_is_last":true,"title":["A PRIMPOL mutation and variants in multiple genes may contribute to phenotypes in a familial case with chronic progressive external ophthalmoplegia symptoms"],"weko_creator_id":"18","weko_shared_id":-1},"updated":"2024-01-09T01:51:20.765048+00:00"}