{"created":"2023-06-20T15:49:11.405794+00:00","id":3757,"links":{},"metadata":{"_buckets":{"deposit":"69474c54-82e2-4380-904a-bc0e7be5f93d"},"_deposit":{"created_by":4,"id":"3757","owners":[4],"pid":{"revision_id":0,"type":"depid","value":"3757"},"status":"published"},"_oai":{"id":"oai:hama-med.repo.nii.ac.jp:00003757","sets":["1:11"]},"author_link":[],"item_3_alternative_title_1":{"attribute_name":"その他のタイトル","attribute_value_mlt":[{"subitem_alternative_title":"A deep intronic variant in POLR3A"}]},"item_3_biblio_info_5":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2020-10","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"10","bibliographicPageEnd":"925","bibliographicPageStart":"921","bibliographicVolumeNumber":"65","bibliographic_titles":[{"bibliographic_title":"Journal of human genetics"}]}]},"item_3_description_9":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Pseudo-exon inclusion caused by deep intronic variants is an important genetic cause for various disorders. Here, we present a case of a hypomyelinating leukodystrophy with developmental delay, intellectual disability, autism spectrum disorder and hypodontia, which are consistent with autosomal recessive POLR3-related leukodystrophy. Whole-exome sequencing identified only a heterozygous missense variant (c.1451G>A) in POLR3A. To explore possible involvement of a deep intronic variant in another allele, we performed whole-genome sequencing of the patient with variant annotation by SpliceAI, a deep learning-based splicing prediction tool. A deep intronic variant (c.645+312C>T) in POLR3A, which was predicted to cause inclusion of a pseudo-exon derived from an Alu element, was identified and confirmed by mRNA analysis. These results clearly showed that whole-genome sequencing, in combination with deep-learning based annotation tools such as SpliceAI, will bring us further benefits in detecting and evaluating possible pathogenic variants in deep intronic regions.","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":"32483275","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/s10038-020-0786-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: https://doi.org/10.1038/s10038-020-0786-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":"Hiraide, Takuya"}]},{"creatorNames":[{"creatorName":"Nakashima, Mitsuko"}]},{"creatorNames":[{"creatorName":"Ikeda, Takahiro"}]},{"creatorNames":[{"creatorName":"Tanaka, Daisuke"}]},{"creatorNames":[{"creatorName":"Osaka, Hitoshi"}]},{"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":"2021-08-20"}],"displaytype":"detail","filename":"JHG-65-921.pdf","filesize":[{"value":"1.4 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"JHG-65-921.pdf","url":"https://hama-med.repo.nii.ac.jp/record/3757/files/JHG-65-921.pdf"},"version_id":"5a6c095e-affb-4ba6-ab4a-c3b173c91aca"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"Deep intronic variants","subitem_subject_scheme":"Other"},{"subitem_subject":"Pseudo-exon inclusion","subitem_subject_scheme":"Other"},{"subitem_subject":"POLR3A","subitem_subject_scheme":"Other"},{"subitem_subject":"whole-genome sequencing","subitem_subject_scheme":"Other"},{"subitem_subject":"SpliceAI","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":"Identification of a deep intronic POLR3A variant causing inclusion of a pseudo-exon derived from an Alu element in Pol III-related leukodystrophy","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Identification of a deep intronic POLR3A variant causing inclusion of a pseudo-exon derived from an Alu element in Pol III-related leukodystrophy","subitem_title_language":"en"}]},"item_type_id":"3","owner":"4","path":["11"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2021-08-20"},"publish_date":"2021-08-20","publish_status":"0","recid":"3757","relation_version_is_last":true,"title":["Identification of a deep intronic POLR3A variant causing inclusion of a pseudo-exon derived from an Alu element in Pol III-related leukodystrophy"],"weko_creator_id":"4","weko_shared_id":-1},"updated":"2023-08-02T05:24:25.591699+00:00"}