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We report on an 8-year-old Japanese girl who presented with a developmental disorder and microcephaly and carries a novel nonsense mutation in <jats:italic>CHAMP1<\/jats:italic>. Therefore, CHAMP1 mutation should be considered as a differential diagnosis of global developmental delay and microcephaly.<\/jats:p>","DOI":"10.1038\/s41439-021-00165-7","type":"journal-article","created":{"date-parts":[[2021,8,17]],"date-time":"2021-08-17T05:03:32Z","timestamp":1629176612000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Intellectual disability and microcephaly associated with a novel CHAMP1 mutation"],"prefix":"10.1038","volume":"8","author":[{"given":"Yuta","family":"Asakura","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1320-1165","authenticated-orcid":false,"given":"Hitoshi","family":"Osaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiromi","family":"Aoi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeshi","family":"Mizuguchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takanori","family":"Yamagata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,8,17]]},"reference":[{"key":"165_CR1","doi-asserted-by":"publisher","first-page":"493","DOI":"10.1016\/j.ajhg.2015.08.003","volume":"97","author":"M Hempel","year":"2015","unstructured":"Hempel, M. et al. De novo mutations in CHAMP1 cause intellectual disability with severe speech impairment. Am. J. Hum. Genet. 97, 493\u2013500 (2015).","journal-title":"Am. J. Hum. Genet."},{"key":"165_CR2","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1101\/mcs.a000661","volume":"2","author":"AJ Tanaka","year":"2016","unstructured":"Tanaka, A. J. et al. De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features. Cold Spring Harb. Mol. Case Stud. 2, 1\u20138 (2016).","journal-title":"Cold Spring Harb. Mol. Case Stud."},{"key":"165_CR3","doi-asserted-by":"publisher","first-page":"354","DOI":"10.1002\/humu.22952","volume":"37","author":"B Isidor","year":"2016","unstructured":"Isidor, B. et al. De novo truncating mutations in the kinetochore-microtubules attachment gene CHAMP1 cause syndromic intellectual disability. Hum. Mutat. 37, 354\u2013358 (2016).","journal-title":"Hum. 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