{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T13:50:34Z","timestamp":1790257834879,"version":"4.1.0"},"reference-count":22,"publisher":"Cold Spring Harbor Laboratory","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:p>We identified five unrelated individuals with significant global developmental delay and intellectual disability (ID), dysmorphic facial features and frequent microcephaly, and de novo predicted loss-of-function variants in chromosome alignment maintaining phosphoprotein 1 (<jats:italic>CHAMP1<\/jats:italic>). Our findings are consistent with recently reported de novo mutations in <jats:italic>CHAMP1<\/jats:italic> in five other individuals with similar features. CHAMP1 is a zinc finger protein involved in kinetochore\u2013microtubule attachment and is required for regulating the proper alignment of chromosomes during metaphase in mitosis. Mutations in <jats:italic>CHAMP1<\/jats:italic> may affect cell division and hence brain development and function, resulting in developmental delay and ID.<\/jats:p>","DOI":"10.1101\/mcs.a000661","type":"journal-article","created":{"date-parts":[[2016,2,15]],"date-time":"2016-02-15T18:30:52Z","timestamp":1455561052000},"page":"a000661","source":"Crossref","is-referenced-by-count":41,"title":["De novo pathogenic variants in <i>CHAMP1<\/i> are associated with global developmental delay, intellectual disability, and dysmorphic facial features"],"prefix":"10.1101","volume":"2","author":[{"given":"Akemi J.","family":"Tanaka","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan T.","family":"Cho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyle","family":"Retterer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie R.","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Nowak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Douglas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong-Hui","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allyn","family":"McConkie-Rosell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. Bradley","family":"Schaefer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Kaylor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omar A.","family":"Rahman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aida","family":"Telegrafi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bethany","family":"Friedman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ganka","family":"Douglas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin G.","family":"Monaghan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy K.","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"246","published-online":{"date-parts":[[2015,11,2]]},"reference":[{"key":"2021112506093166000_2.1.a000661.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ceb.2011.11.012"},{"key":"2021112506093166000_2.1.a000661.2","first-page":"547986","article-title":"Molecular and cellular basis of autosomal recessive primary microcephaly","volume":"2014","year":"2014","journal-title":"Biomed Res Int"},{"key":"2021112506093166000_2.1.a000661.3","doi-asserted-by":"publisher","DOI":"10.1038\/nature14216"},{"key":"2021112506093166000_2.1.a000661.4","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/nature14135","article-title":"Large-scale discovery of novel genetic causes of developmental disorders","volume":"519","author":"Deciphering Developmental Disorders Study","year":"2015","journal-title":"Nature"},{"key":"2021112506093166000_2.1.a000661.5","doi-asserted-by":"publisher","DOI":"10.1038\/ng.806"},{"key":"2021112506093166000_2.1.a000661.6","doi-asserted-by":"publisher","DOI":"10.1038\/nature13394"},{"key":"2021112506093166000_2.1.a000661.7","doi-asserted-by":"publisher","DOI":"10.1038\/nature11405"},{"key":"2021112506093166000_2.1.a000661.8","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1016\/j.ajhg.2015.08.003","article-title":"De novo mutations in CHAMP1 cause intellectual disability with severe speech impairment","volume":"97","year":"2015","journal-title":"Am J Hum Genet"},{"key":"2021112506093166000_2.1.a000661.9","doi-asserted-by":"publisher","DOI":"10.1038\/emboj.2010.276"},{"key":"2021112506093166000_2.1.a000661.10","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bts280"},{"key":"2021112506093166000_2.1.a000661.11","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"2021112506093166000_2.1.a000661.12","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp352"},{"key":"2021112506093166000_2.1.a000661.13","first-page":"1134","article-title":"De novo interstitial deletion 13q33.3q34 in a male patient with double outlet right ventricle, microcephaly, dysmorphic craniofacial findings, and motor and developmental delay","volume":"167A","year":"2015","journal-title":"Am J Med Genet A"},{"key":"2021112506093166000_2.1.a000661.14","doi-asserted-by":"publisher","DOI":"10.1093\/dnares\/8.2.85"},{"key":"2021112506093166000_2.1.a000661.15","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201209015"},{"key":"2021112506093166000_2.1.a000661.16","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(12)61480-9"},{"key":"2021112506093166000_2.1.a000661.17","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1002\/humu.22844","article-title":"GeneMatcher: A matching tool for connecting investigators with an interest in the same gene","volume":"36","year":"2015","journal-title":"Hum Mutat"},{"key":"2021112506093166000_2.1.a000661.18","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3241"},{"key":"2021112506093166000_2.1.a000661.19","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1002\/ajmg.a.32127","article-title":"Chromosome deletions in 13q33-34: report of four patients and review of the literature","volume":"146A","year":"2008","journal-title":"Am J Med Genet A"},{"key":"2021112506093166000_2.1.a000661.20","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102691"},{"key":"2021112506093166000_2.1.a000661.21","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1306555"},{"key":"2021112506093166000_2.1.a000661.22","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2014.14601"}],"container-title":["Molecular Case Studies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1101\/mcs.a000661","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,25]],"date-time":"2021-11-25T14:09:43Z","timestamp":1637849383000},"score":1,"resource":{"primary":{"URL":"http:\/\/molecularcasestudies.cshlp.org\/lookup\/doi\/10.1101\/mcs.a000661"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,11,2]]},"references-count":22,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2016,1,4]]},"published-print":{"date-parts":[[2016,1]]}},"alternative-id":["10.1101\/mcs.a000661"],"URL":"https:\/\/doi.org\/10.1101\/mcs.a000661","relation":{},"ISSN":["2373-2865","2373-2873"],"issn-type":[{"value":"2373-2865","type":"print"},{"value":"2373-2873","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,11,2]]}}}