{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T09:19:42Z","timestamp":1766481582320,"version":"3.48.0"},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,6,29]],"date-time":"2025-06-29T00:00:00Z","timestamp":1751155200000},"content-version":"vor","delay-in-days":179,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP23ek0109549"],"award-info":[{"award-number":["JP23ek0109549"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP23ek0109637"],"award-info":[{"award-number":["JP23ek0109637"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP23ek0109674"],"award-info":[{"award-number":["JP23ek0109674"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP20H03641"],"award-info":[{"award-number":["JP20H03641"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP23H02875"],"award-info":[{"award-number":["JP23H02875"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    <jats:italic>ZNF335<\/jats:italic>\n                    plays an essential role in the neurogenesis of the human brain, and pathogenic variants of\n                    <jats:italic>ZNF335<\/jats:italic>\n                    are associated with primary or secondary (postnatal) microcephaly. We performed exome sequencing in a patient with secondary microcephaly, epilepsy, global developmental delay, and dysmorphic craniofacial features, and identified compound heterozygous missense and intronic variants in\n                    <jats:italic>ZNF335<\/jats:italic>\n                    (NM_022095.4:c.1504T&gt;G, p.(Tyr502Asp) and c.1665\u2009+\u20096T&gt;A). Using a minigene assay, we demonstrated that the intronic variant causes aberrant splicing, resulting in significantly reduced ZNF335 protein levels. In addition, a review of the clinical findings of previously reported 10 patients with\n                    <jats:italic>ZNF335<\/jats:italic>\n                    variants revealed that microcephaly was present in all patients, about half of them were secondary, and epilepsy and severe developmental delay were also quite recurrent findings.\n                  <\/jats:p>","DOI":"10.1111\/cga.70014","type":"journal-article","created":{"date-parts":[[2025,6,29]],"date-time":"2025-06-29T22:38:12Z","timestamp":1751236692000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Compound heterozygous\n                    <scp>\n                      <i>ZNF335<\/i>\n                    <\/scp>\n                    variants in a patient with microcephaly, refractory epilepsy, and severe developmental delay: A case report and literature review"],"prefix":"10.1111","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6001-6395","authenticated-orcid":false,"given":"Kaori","family":"Yamoto","sequence":"first","affiliation":[{"name":"Department of Biochemistry Hamamatsu University School of Medicine  Hamamatsu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2124-4795","authenticated-orcid":false,"given":"Sachiko","family":"Miyamoto","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Hamamatsu University School of Medicine  Hamamatsu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kosuke","family":"Yamada","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics and Cytogenetics Shizuoka Children's Hospital  Shizuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mitsuko","family":"Nakashima","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Hamamatsu University School of Medicine  Hamamatsu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2732-8722","authenticated-orcid":false,"given":"Kenji","family":"Shimizu","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics and Cytogenetics Shizuoka Children's Hospital  Shizuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0723-0960","authenticated-orcid":false,"given":"Hirotomo","family":"Saitsu","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Hamamatsu University School of Medicine  Hamamatsu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,6,29]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_10_2_1","DOI":"10.3389\/fcell.2021.784700"},{"doi-asserted-by":"publisher","key":"e_1_2_10_3_1","DOI":"10.1016\/j.cell.2012.10.043"},{"doi-asserted-by":"publisher","key":"e_1_2_10_4_1","DOI":"10.1542\/peds.2016-0897"},{"doi-asserted-by":"publisher","key":"e_1_2_10_5_1","DOI":"10.1007\/s12031-021-01955-y"},{"doi-asserted-by":"publisher","key":"e_1_2_10_6_1","DOI":"10.1111\/cge.13260"},{"doi-asserted-by":"publisher","key":"e_1_2_10_7_1","DOI":"10.1002\/ajmg.a.63593"},{"doi-asserted-by":"publisher","key":"e_1_2_10_8_1","DOI":"10.1038\/s10038-021-00956-4"},{"doi-asserted-by":"publisher","key":"e_1_2_10_9_1","DOI":"10.1038\/s10038-023-01211-8"},{"doi-asserted-by":"publisher","key":"e_1_2_10_10_1","DOI":"10.1002\/humu.23798"},{"doi-asserted-by":"publisher","key":"e_1_2_10_11_1","DOI":"10.1038\/gim.2015.30"},{"doi-asserted-by":"publisher","key":"e_1_2_10_12_1","DOI":"10.1016\/j.ajhg.2023.06.002"}],"container-title":["Congenital Anomalies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cga.70014","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T09:16:54Z","timestamp":1766481414000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cga.70014"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1111\/cga.70014"],"URL":"https:\/\/doi.org\/10.1111\/cga.70014","archive":["Portico"],"relation":{},"ISSN":["0914-3505","1741-4520"],"issn-type":[{"type":"print","value":"0914-3505"},{"type":"electronic","value":"1741-4520"}],"subject":[],"published":{"date-parts":[[2025,1]]},"assertion":[{"value":"2025-02-03","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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