{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T20:07:11Z","timestamp":1787170031508,"version":"build-2736575974"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,1,27]],"date-time":"2021-01-27T00:00:00Z","timestamp":1611705600000},"content-version":"vor","delay-in-days":0,"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":["JP18ek0109301"],"award-info":[{"award-number":["JP18ek0109301"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Cortical dysplasia, complex, with other brain malformations 3 (CDCBM3) is a rare autosomal dominant syndrome caused by\n                    <jats:italic>Kinesin family Member 2A<\/jats:italic>\n                    (\n                    <jats:italic>KIF2A<\/jats:italic>\n                    ) gene mutation. Patients with CDCBM3 exhibit posterior dominant agyria\/pachygyria with severe motor dysfunction. Here, we report an 8\u2010year\u2010old boy with CDCBM3 showing a typical, but relatively mild, clinical presentation of CDCBM3 features. Whole\u2010exome sequencing identified a heterozygous mutation of NM_001098511.2:c.1298C&gt;A [p.(Ser433Tyr)]. To our knowledge, the mutation has never been reported previously. The variant was located distal to the nucleotide binding domain (NBD), in which previously\u2010reported variants in CDCBM3 patients have been located. The computational structural analysis showed the p.433 forms the pocket with NBD. Variants in\n                    <jats:italic>KIF2A<\/jats:italic>\n                    have been reported in the NBD for CDCBM3, in the kinesin motor 3 domain, but not in the NBD in epilepsy, and outside of the kinesin motor domain in autism spectrum syndrome, respectively. Our patient has a variant, that is not in the NBD but at the pocket with the NBD, resulting in a clinical features of CDCBM3 with mild symptoms. The clinical findings of patients with\n                    <jats:italic>KIF2A<\/jats:italic>\n                    variants appear restricted to the central nervous system and facial anomalies. We can call this spectrum \u201cKIF2A syndrome\u201d with variable severity.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.62084","type":"journal-article","created":{"date-parts":[[2021,1,28]],"date-time":"2021-01-28T02:25:15Z","timestamp":1611800715000},"page":"1113-1119","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Variants in\n                    <scp>\n                      <i>KIF2A<\/i>\n                    <\/scp>\n                    cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with other brain malformations 3"],"prefix":"10.1002","volume":"185","author":[{"given":"Maiko","family":"Hatano","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of Tsukuba Hospital  Ibaraki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroko","family":"Fukushima","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Tsukuba Hospital  Ibaraki Japan"},{"name":"Department of Child Health, Faculty of Medicine University of Tsukuba  Ibaraki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatsuyuki","family":"Ohto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Tsukuba Hospital  Ibaraki Japan"},{"name":"Department of Child Health, Faculty of Medicine University of Tsukuba  Ibaraki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuichi","family":"Ueno","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Tsukuba Hospital  Ibaraki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saki","family":"Saeki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Tsukuba Hospital  Ibaraki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Enokizono","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Tsukuba Hospital  Ibaraki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryuta","family":"Tanaka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Tsukuba Hospital  Ibaraki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mai","family":"Tanaka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Tsukuba Hospital  Ibaraki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuo","family":"Imagawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Tsukuba Hospital  Ibaraki 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