{"created":"2025-01-14T01:38:14.433703+00:00","id":2012240,"links":{},"metadata":{"_buckets":{"deposit":"ea878104-0c1b-43b4-a30a-7549839c807e"},"_deposit":{"created_by":7,"id":"2012240","owners":[7],"pid":{"revision_id":0,"type":"depid","value":"2012240"},"status":"published"},"_oai":{"id":"oai:tokushima-u.repo.nii.ac.jp:02012240","sets":["1713853213384:1713853295607"]},"author_link":["796","190"],"item_10001_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2024-03-12","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"6","bibliographicPageEnd":"233","bibliographicPageStart":"230","bibliographicVolumeNumber":"46","bibliographic_titles":[{"bibliographic_title":"Brain and Development","bibliographic_titleLang":"en"}]}]},"item_10001_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Background\nHeterozygous L1CAM variants cause L1 syndrome with hydrocephalus and aplasia/hypoplasia of the corpus callosum. L1 syndrome usually has an X-linked recessive inheritance pattern; however, we report a rare case occurring in a female child.\nCase presentation\nThe patient’s family history was unremarkable. Fetal ultrasonography revealed enlarged bilateral ventricles of the brain and hypoplasia of the corpus callosum. The patient was born at 38 weeks and 4 days of gestation. Brain MRI performed on the 8th day of life revealed enlargement of the brain ventricles, marked in the lateral and third ventricles with irregular margins, and hypoplasia of the corpus callosum. Exome sequencing at the age of 2 years and 3 months revealed a de novo heterozygous L1CAM variant (NM_000425.5: c.2934_2935delp. (His978Glnfs * 25). X-chromosome inactivation using the human androgen receptor assay revealed that the pattern of X-chromosome inactivation in the patients was highly skewed (96.6%). The patient is now 4 years and 11 months old and has a mild developmental delay (developmental quotient, 56) without significant progression of hydrocephalus.\nConclusion\nIn this case, we hypothesized that the dominant expression of the variant allele arising from skewed X inactivation likely caused L1 syndrome. Symptomatic female carriers may challenge the current policies of prenatal and preimplantation diagnoses.","subitem_description_language":"en","subitem_description_type":"Abstract"}]},"item_10001_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"Elsevier","subitem_publisher_language":"en"}]},"item_10001_rights_15":{"attribute_name":"権利情報","attribute_value_mlt":[{"subitem_rights":"© 2024. This manuscript version is made available under the CC-BY-NC-ND 4.0 license\nhttps://creativecommons.org/licenses/by-nc-nd/4.0/","subitem_rights_language":"en"}]},"item_10001_source_id_9":{"attribute_name":"収録物ID","attribute_value_mlt":[{"subitem_source_identifier":"03877604","subitem_source_identifier_type":"ISSN"},{"subitem_source_identifier":"18727131","subitem_source_identifier_type":"ISSN"},{"subitem_source_identifier":"AA00111153","subitem_source_identifier_type":"NCID"},{"subitem_source_identifier":"AA11521714","subitem_source_identifier_type":"NCID"}]},"item_10001_version_type_20":{"attribute_name":"出版タイプ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_be7fb7dd8ff6fe43","subitem_version_type":"NA"}]},"item_1715043197608":{"attribute_name":"アクセス権","attribute_value_mlt":[{"subitem_access_right":"embargoed access"}]},"item_1722929371688":{"attribute_name":"出版社版DOI","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_language":"ja","subitem_relation_name_text":"10.1016/j.braindev.2024.03.001"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://doi.org/10.1016/j.braindev.2024.03.001","subitem_relation_type_select":"DOI"}}]},"item_1723180141928":{"attribute_name":"EID","attribute_value_mlt":[{"subitem_identifier_type":"URI","subitem_identifier_uri":"411980"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorAffiliations":[{"affiliationNameIdentifiers":[{"affiliationNameIdentifier":"","affiliationNameIdentifierScheme":"ISNI","affiliationNameIdentifierURI":"http://www.isni.org/isni/"}],"affiliationNames":[{"affiliationName":"","affiliationNameLang":"ja"}]}],"creatorNames":[{"creatorName":"森, 達夫","creatorNameLang":"ja"},{"creatorName":"モリ, タツオ","creatorNameLang":"ja-Kana"},{"creatorName":"Mori, 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彩","creatorNameLang":"ja"},{"creatorName":"ゴウジ, アヤ","creatorNameLang":"ja-Kana"},{"creatorName":"Goji, Aya","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"トダ, ヨシヒロ","creatorNameLang":"ja"},{"creatorName":"トダ, ヨシヒロ","creatorNameLang":"ja-Kana"},{"creatorName":"Toda, Yoshihiro","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"カメヤマ, シンイチ","creatorNameLang":"ja"},{"creatorName":"カメヤマ, シンイチ","creatorNameLang":"ja-Kana"},{"creatorName":"Kameyama, Shinichi","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"ミズグチ, タケシ","creatorNameLang":"ja"},{"creatorName":"ミズグチ, タケシ","creatorNameLang":"ja-Kana"},{"creatorName":"Mizuguchi, Takeshi","creatorNameLang":"en"}]},{"creatorAffiliations":[{"affiliationNameIdentifiers":[{"affiliationNameIdentifier":"","affiliationNameIdentifierScheme":"ISNI","affiliationNameIdentifierURI":"http://www.isni.org/isni/"}],"affiliationNames":[{"affiliationName":"","affiliationNameLang":"ja"}]}],"creatorNames":[{"creatorName":"漆原, 真樹","creatorNameLang":"ja"},{"creatorName":"ウルシハラ, マキ","creatorNameLang":"ja-Kana"},{"creatorName":"Urushihara, Maki","creatorNameLang":"en"}],"familyNames":[{"familyName":"漆原","familyNameLang":"ja"},{"familyName":"ウルシハラ","familyNameLang":"ja-Kana"},{"familyName":"Urushihara","familyNameLang":"en"}],"givenNames":[{"givenName":"真樹","givenNameLang":"ja"},{"givenName":"マキ","givenNameLang":"ja-Kana"},{"givenName":"Maki","givenNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"190","nameIdentifierScheme":"WEKO"},{"nameIdentifier":"121546/profile-ja.html","nameIdentifierScheme":"徳島大学 教育研究者総覧","nameIdentifierURI":"http://pub2.db.tokushima-u.ac.jp/ERD/person/121546/profile-ja.html"},{"nameIdentifier":"50403689","nameIdentifierScheme":"e-Rad","nameIdentifierURI":"https://nrid.nii.ac.jp/ja/search/?qm=50403689"}]},{"creatorNames":[{"creatorName":"マツモト, ナオミチ","creatorNameLang":"ja"},{"creatorName":"マツモト, ナオミチ","creatorNameLang":"ja-Kana"},{"creatorName":"Matsumoto, Naomichi","creatorNameLang":"en"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2025-03-12"}],"displaytype":"detail","filename":"braindev_46_6_230.pdf","filesize":[{"value":"1.25 MB"}],"format":"application/pdf","mimetype":"application/pdf","url":{"objectType":"fulltext","url":"https://tokushima-u.repo.nii.ac.jp/record/2012240/files/braindev_46_6_230.pdf"},"version_id":"90151e6f-0385-40b1-beb1-68a48d155d28"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"L1CAM","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"L1 syndrome","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Hydrocephalus","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Hypoplasia of the corpus callosum","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Skewed X-inactivation","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":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"A female case of L1 syndrome that may have developed due to skewed X inactivation","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"A female case of L1 syndrome that may have developed due to skewed X inactivation","subitem_title_language":"en"}]},"item_type_id":"40001","owner":"7","path":["1713853295607"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2024-09-13"},"publish_date":"2024-09-13","publish_status":"0","recid":"2012240","relation_version_is_last":true,"title":["A female case of L1 syndrome that may have developed due to skewed X inactivation"],"weko_creator_id":"7","weko_shared_id":-1},"updated":"2025-01-29T11:22:03.144870+00:00"}