{"created":"2023-06-19T11:24:15.817862+00:00","id":4954,"links":{},"metadata":{"_buckets":{"deposit":"97c6ab1f-1347-42f1-a7d3-c8008efc74bc"},"_deposit":{"created_by":1,"id":"4954","owners":[1],"pid":{"revision_id":0,"type":"depid","value":"4954"},"status":"published"},"_oai":{"id":"oai:asahikawa-med.repo.nii.ac.jp:00004954","sets":["7","7:24"]},"author_link":["15379","15383","15384","15380","15385","15386","15381","15382","15387"],"item_5_biblio_info_21":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2012-08-01","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"8","bibliographicPageEnd":"1956","bibliographicPageStart":"1953","bibliographicVolumeNumber":"158A","bibliographic_titles":[{"bibliographic_title":"American journal of medical genetics. Part A"}]}]},"item_5_description_28":{"attribute_name":"識別番号 その他","attribute_value_mlt":[{"subitem_description":"PMID:22711552","subitem_description_type":"Other"}]},"item_5_description_33":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Heterozygous COL2A1 mutations create a group of skeletal dysplasias collectively termed type II collagenopathies. Sporadic cases of type II collagenopathies are almost exclusively caused by de novo mutations. Very few cases with intrafamilial recurrence due to germinal mosaicism have been known. We report here on a family in which a severe form of skeletal dysplasia was recurrent in two sibs whose phenotype was most consistent with platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T). A COL2A1 analysis showed that the two sibs had a heterozygous mutation in the triple helical region of COL2A1, c.3545G>A (p.G1182A) in exon 50. The parents did not consent to a molecular analysis; however, the presence of the same mutation in the two sibs is proof of germinal mosaicism in one of the parents. PLSD-T has been believed to arise from a heterozygous dominant negative mutation in the C-propeptide region of COL2A1. However, our observation suggests that the phenotype is also caused by a mutation in the C-terminal triple helical region of COL2A1.","subitem_description_type":"Abstract"}]},"item_5_description_36":{"attribute_name":"内容記述","attribute_value_mlt":[{"subitem_description":"Author","subitem_description_type":"Other"}]},"item_5_description_37":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"subitem_description":"text","subitem_description_type":"Other"}]},"item_5_description_41":{"attribute_name":"フォーマット","attribute_value_mlt":[{"subitem_description":"application/pdf","subitem_description_type":"Other"}]},"item_5_relation_24":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_type":"isVersionOf","subitem_relation_type_id":{"subitem_relation_type_id_text":"10.1002/ajmg.a.35509","subitem_relation_type_select":"DOI"}}]},"item_5_source_id_22":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"1552-4825","subitem_source_identifier_type":"ISSN"}]},"item_5_text_44":{"attribute_name":"ID(XooNIps)","attribute_value_mlt":[{"subitem_text_value":"22711552"}]},"item_5_text_54":{"attribute_name":"閲覧数(XooNIps)","attribute_value_mlt":[{"subitem_text_value":"545"}]},"item_5_text_55":{"attribute_name":"ダウンロード数(XooNIps)","attribute_value_mlt":[{"subitem_text_value":"581"}]},"item_5_text_7":{"attribute_name":"著者 ローマ字","attribute_value_mlt":[{"subitem_text_value":"Okamoto, Toshio"},{"subitem_text_value":"Nagaya, Ken"},{"subitem_text_value":"Asai, Hiroko"},{"subitem_text_value":"Tsuchida, Etsushi"},{"subitem_text_value":"Nohara, Fumikatsu"},{"subitem_text_value":"Hayashi, Tokitsugi"},{"subitem_text_value":"Yamashita, Akiko"},{"subitem_text_value":"Nishimura, Gen"},{"subitem_text_value":"Azuma, Hiroshi"}]},"item_5_version_type_38":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_ab4af688f83e57aa","subitem_version_type":"AM"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"岡本, 年男"},{"creatorName":"オカモト, トシオ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{"nameIdentifier":"15379","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Nagaya, Ken"},{"creatorName":"ナガヤ, ケン","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{"nameIdentifier":"15380","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Asai, Hiroko"},{"creatorName":"アサイ, ヒロコ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{"nameIdentifier":"15381","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Tsuchida, Etsushi"},{"creatorName":"ツチダ, エツシ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{"nameIdentifier":"15382","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Nohara, Fumikatsu"},{"creatorName":"ノハラ, フミカツ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{"nameIdentifier":"15383","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Hayashi, Tokitsugi"},{"creatorName":"ハヤシ, トキツギ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{"nameIdentifier":"15384","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Yamashita, Akiko"},{"creatorName":"ヤマシタ, アキコ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{"nameIdentifier":"15385","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Nishimura, Gen"},{"creatorName":"ニシムラ, ゲン","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{"nameIdentifier":"15386","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Azuma, Hiroshi"},{"creatorName":"アズマ, ヒロシ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{"nameIdentifier":"15387","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":"2021-07-06"}],"displaytype":"detail","filename":"5816.pdf","filesize":[{"value":"101.4 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"5816.pdf","url":"https://asahikawa-med.repo.nii.ac.jp/record/4954/files/5816.pdf"},"version_id":"f571e20a-d8b9-4020-9d60-71cdcd994ac7"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"Skeletal dysplasia","subitem_subject_scheme":"Other"},{"subitem_subject":"COL2A1","subitem_subject_scheme":"Other"},{"subitem_subject":"platyspondylic lethal skeletal dysplasia","subitem_subject_scheme":"Other"},{"subitem_subject":"Torrance type","subitem_subject_scheme":"Other"},{"subitem_subject":"sib case","subitem_subject_scheme":"Other"},{"subitem_subject":"germline mosaicism","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":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"Platyspondylic lethal dysplasia torrance type with a heterozygous mutation in the triple helical domain of COL2A1 in two sibs from phenotypically normal parents.","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Platyspondylic lethal dysplasia torrance type with a heterozygous mutation in the triple helical domain of COL2A1 in two sibs from phenotypically normal parents."}]},"item_type_id":"5","owner":"1","path":["6","7","24"],"pubdate":{"attribute_name":"公開日","attribute_value":"2014-07-23"},"publish_date":"2014-07-23","publish_status":"0","recid":"4954","relation_version_is_last":true,"title":["Platyspondylic lethal dysplasia torrance type with a heterozygous mutation in the triple helical domain of COL2A1 in two sibs from phenotypically normal parents."],"weko_creator_id":"1","weko_shared_id":-1},"updated":"2023-06-19T12:32:50.781803+00:00"}