{"created":"2023-06-20T15:49:12.976998+00:00","id":3790,"links":{},"metadata":{"_buckets":{"deposit":"6106054b-4fba-4528-abba-cf33f7de78b4"},"_deposit":{"created_by":4,"id":"3790","owners":[4],"pid":{"revision_id":0,"type":"depid","value":"3790"},"status":"published"},"_oai":{"id":"oai:hama-med.repo.nii.ac.jp:00003790","sets":["1:11"]},"author_link":[],"item_3_biblio_info_5":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2021-11","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"11","bibliographicPageEnd":"1068","bibliographicPageStart":"1061","bibliographicVolumeNumber":"66","bibliographic_titles":[{"bibliographic_title":"Journal of Human Genetics"}]}]},"item_3_description_9":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Corpus callosum anomalies (CCA) is a common congenital brain anomaly with various etiologies. Although one of the most important etiologies is genetic factors, the genetic background of CCA is heterogenous and diverse types of variants are likely to be causative. In this study, we analyzed 16 Japanese patients with corpus callosum anomalies to delineate clinical features and the genetic background of CCAs. We observed the common phenotypes accompanied by CCAs: intellectual disability (100%), motor developmental delay (93.8%), seizures (60%), and facial dysmorphisms (50%). Brain magnetic resonance imaging showed colpocephaly (enlarged posterior horn of the lateral ventricles, 84.6%) and enlarged supracerebellar cistern (41.7%). Whole exome sequencing revealed genetic alterations in 9 of the 16 patients (56.3%), including 8 de novo alterations (2 copy number variants and variants in ARID1B, CDK8, HIVEP2, and TCF4) and a recessive variant of TBCK. De novo ARID1B variants were identified in three unrelated individuals, suggesting that ARID1B variants are major genetic causes of CCAs. A de novo TCF4 variant and somatic mosaic deletion at 18q21.31-qter encompassing TCF4 suggest an association of TCF4 abnormalities with CCAs. This study to analyze CCA patients using whole exome sequencing, demonstrating that comprehensive genetic analysis would be useful for investigating various causal variants of CCAs.","subitem_description_type":"Abstract"}]},"item_3_publisher_6":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"Springer Nature"}]},"item_3_relation_26":{"attribute_name":"PubMed番号","attribute_value_mlt":[{"subitem_relation_type":"isVersionOf","subitem_relation_type_id":{"subitem_relation_type_id_text":"33958710","subitem_relation_type_select":"PMID"}}]},"item_3_relation_28":{"attribute_name":"出版社DOI","attribute_value_mlt":[{"subitem_relation_type":"isVersionOf","subitem_relation_type_id":{"subitem_relation_type_id_text":"10.1038/s10038-021-00932-y","subitem_relation_type_select":"DOI"}}]},"item_3_rights_7":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"\"This is a post-peer-review, pre-copyedit version of an article published in \"\"Journal of Human Genetics\"\". The final authenticated version is available online at: http://dx.doi.org/10.1038/s10038-021-00932-y.\""}]},"item_3_source_id_19":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"1434-5161","subitem_source_identifier_type":"ISSN"}]},"item_3_source_id_20":{"attribute_name":"EISSN","attribute_value_mlt":[{"subitem_source_identifier":"1435-232X","subitem_source_identifier_type":"ISSN"}]},"item_3_version_type_32":{"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":"Miyamoto, Sachiko"}]},{"creatorNames":[{"creatorName":"Kato, Mitsuhiro"}]},{"creatorNames":[{"creatorName":"Hiraide, Takuya"}]},{"creatorNames":[{"creatorName":"Shiohama, Tadashi"}]},{"creatorNames":[{"creatorName":"Goto, Tomohide"}]},{"creatorNames":[{"creatorName":"Hojo, Akira"}]},{"creatorNames":[{"creatorName":"Ebata, Akio"}]},{"creatorNames":[{"creatorName":"Suzuki, Manabu"}]},{"creatorNames":[{"creatorName":"Kobayashi, Kozue"}]},{"creatorNames":[{"creatorName":"Chong, Pin Fee"}]},{"creatorNames":[{"creatorName":"Kira, Ryutaro"}]},{"creatorNames":[{"creatorName":"Baber Matsushita, Hiroko"}]},{"creatorNames":[{"creatorName":"Ikeda, Hiroko"}]},{"creatorNames":[{"creatorName":"Hoshino, Kyoko"}]},{"creatorNames":[{"creatorName":"Matsufuji, Mayumi"}]},{"creatorNames":[{"creatorName":"Moriyama, Nobuko"}]},{"creatorNames":[{"creatorName":"Furuyama, Masayuki"}]},{"creatorNames":[{"creatorName":"Yamamoto, Tatsuya"}]},{"creatorNames":[{"creatorName":"Nakashima, Mitsuko"}]},{"creatorNames":[{"creatorName":"Saitsu, Hirotomo"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2021-11-06"}],"displaytype":"detail","filename":"JHG-66-1061.pdf","filesize":[{"value":"2.4 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"JHG-66-1061.pdf","url":"https://hama-med.repo.nii.ac.jp/record/3790/files/JHG-66-1061.pdf"},"version_id":"c2bc92bf-4c60-4ef5-a3b0-8a3901660ba9"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"Corpus callosum anomaly","subitem_subject_scheme":"Other"},{"subitem_subject":"colpocephaly","subitem_subject_scheme":"Other"},{"subitem_subject":"copy number variants","subitem_subject_scheme":"Other"},{"subitem_subject":"somatic mosaicism","subitem_subject_scheme":"Other"},{"subitem_subject":"whole exome sequencing","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":"Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies","subitem_title_language":"en"}]},"item_type_id":"3","owner":"4","path":["11"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2021-11-01"},"publish_date":"2021-11-01","publish_status":"0","recid":"3790","relation_version_is_last":true,"title":["Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies"],"weko_creator_id":"4","weko_shared_id":-1},"updated":"2023-08-02T07:42:35.363219+00:00"}