{"_buckets": {"deposit": "6dcc6ebb-9e23-4de3-99b5-609cfaaf6117"}, "_deposit": {"created_by": 17, "id": "2006275", "owners": [17], "pid": {"revision_id": 0, "type": "depid", "value": "2006275"}, "status": "published"}, "_oai": {"id": "oai:nagoya.repo.nii.ac.jp:02006275", "sets": ["1685060434835"]}, "author_link": [], "control_number": "2006275", "item_1615768549627": {"attribute_name": "出版タイプ", "attribute_value_mlt": [{"subitem_version_resource": "http://purl.org/coar/version/c_970fb48d4fbd8a85", "subitem_version_type": "VoR"}]}, "item_9_biblio_info_6": {"attribute_name": "書誌情報", "attribute_value_mlt": [{"bibliographicIssueDates": {"bibliographicIssueDate": "2023-05", "bibliographicIssueDateType": "Issued"}, "bibliographicIssueNumber": "2", "bibliographicPageEnd": "368", "bibliographicPageStart": "362", "bibliographicVolumeNumber": "85", "bibliographic_titles": [{"bibliographic_title": "Nagoya Journal of Medical Science", "bibliographic_titleLang": "en"}]}]}, "item_9_description_4": {"attribute_name": "内容記述", "attribute_value_mlt": [{"subitem_description": "We report a Vietnamese family with complete androgen insensitivity syndrome that included several phenotypic females who have a 46,XY karyotype with an extremely rare mutation of the androgen receptor gene. The proband was a 27-year-old phenotypic adult female referred to our department for karyotyping due to primary amenorrhea. Ultrasound examination revealed a small uterus. Chromosomal analysis showed a 46,XY karyotype. A polymerase chain reaction assay revealed the presence of the sex-determining region Y gene. Next-generation sequencing detected the NM_000044.6(AR):c.2170C\u003eT(p.Pro274Ser) mutation, which was confirmed by Sanger sequencing. There is only one previous report of this mutation in a child with complete androgen insensitivity syndrome. In the family presented in this study, there were four more phenotypic adult females with primary amenorrhea and a phenotypic female infant with testes in the inguinal canals. The infant (first cousin once removed of the proband) presented with inguinal hernia/swelling in a phenotypic female and one of the four abovementioned adults had similar genetic analysis results. This is the second report of a missense mutation NM 000044.6(AR):c.2170C\u003eT in the world and the first study to document a pedigree consisting of several individuals with CAIS as a result of this mutation. The presence of a tiny uterus in the proband, which is a rare occurrence in complete androgen insensitivity syndrome, is a unique clinical indicator of the disorder’s variable expressivity.", "subitem_description_language": "en", "subitem_description_type": "Abstract"}, {"subitem_description": "This is an Open Access article distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (http://creativecommons.org/licenses/by-nc-nd/4.0/).", "subitem_description_language": "en", "subitem_description_type": "Other"}]}, "item_9_identifier_registration": {"attribute_name": "ID登録", "attribute_value_mlt": [{"subitem_identifier_reg_text": "10.18999/nagjms.85.2.362", "subitem_identifier_reg_type": "JaLC"}]}, "item_9_publisher_32": {"attribute_name": "出版者", "attribute_value_mlt": [{"subitem_publisher": "Nagoya University Graduate School of Medicine, School of Medicine", "subitem_publisher_language": "en"}]}, "item_9_relation_43": {"attribute_name": "関連情報", "attribute_value_mlt": [{"subitem_relation_type": "isVersionOf", "subitem_relation_type_id": {"subitem_relation_type_id_text": "https://www.med.nagoya-u.ac.jp/medlib/nagoya_j_med_sci/852.html", "subitem_relation_type_select": "URI"}}]}, "item_9_rights_12": {"attribute_name": "権利", "attribute_value_mlt": [{"subitem_rights": "Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International", "subitem_rights_language": "en", "subitem_rights_resource": "http://creativecommons.org/licenses/by-nc-nd/4.0/"}]}, "item_9_source_id_7": {"attribute_name": "収録物識別子", "attribute_value_mlt": [{"subitem_source_identifier": "0027-7622", "subitem_source_identifier_type": "PISSN"}, {"subitem_source_identifier": "2186-3326", "subitem_source_identifier_type": "EISSN"}]}, "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": "Ha, Thi Minh Thi", "creatorNameLang": "en"}]}, {"creatorNames": [{"creatorName": "Le, Phan Tuong Quynh", "creatorNameLang": "en"}]}, {"creatorNames": [{"creatorName": "Le, Thanh Nha Uyen", "creatorNameLang": "en"}]}, {"creatorNames": [{"creatorName": "Hoang, Thi Thuy Yen", "creatorNameLang": "en"}]}]}, "item_files": {"attribute_name": "ファイル情報", "attribute_type": "file", "attribute_value_mlt": [{"accessrole": "open_access", "date": [{"dateType": "Available", "dateValue": "2023-05-26"}], "displaytype": "detail", "download_preview_message": "", "file_order": 0, "filename": "16_Ha.pdf", "filesize": [{"value": "16.8 MB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_5", "mimetype": "application/pdf", "size": 16800000.0, "url": {"objectType": "fulltext", "url": "https://nagoya.repo.nii.ac.jp/record/2006275/files/16_Ha.pdf"}, "version_id": "d702cb7b-5da3-4c34-9f34-62702b100f97"}]}, "item_keyword": {"attribute_name": "キーワード", "attribute_value_mlt": [{"subitem_subject": "androgen insensitivity syndrome", "subitem_subject_scheme": "Other"}, {"subitem_subject": "androgen receptor gene", "subitem_subject_scheme": "Other"}, {"subitem_subject": "c.2170C\u003eT (p.Pro274Ser)", "subitem_subject_scheme": "Other"}, {"subitem_subject": "primary amenorrhea", "subitem_subject_scheme": "Other"}, {"subitem_subject": "testes in the inguinal canals", "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": "departmental bulletin paper", "resourceuri": "http://purl.org/coar/resource_type/c_6501"}]}, "item_title": "An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome", "item_titles": {"attribute_name": "タイトル", "attribute_value_mlt": [{"subitem_title": "An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome", "subitem_title_language": "en"}]}, "item_type_id": "40001", "owner": "17", "path": ["1685060434835"], "permalink_uri": "https://doi.org/10.18999/nagjms.85.2.362", "pubdate": {"attribute_name": "PubDate", "attribute_value": "2023-05-26"}, "publish_date": "2023-05-26", "publish_status": "0", "recid": "2006275", "relation": {}, "relation_version_is_last": true, "title": ["An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome"], "weko_shared_id": -1}
An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome
https://doi.org/10.18999/nagjms.85.2.362
https://doi.org/10.18999/nagjms.85.2.362