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Exome sequencing revealed a de novo frameshift protein truncating mutation in the fourth exon of <jats:italic>BCL11A<\/jats:italic>, a gene recently demonstrated as being involved in cognition and language development. Making parallels with a previously described patient with a 200\u2009kb 2p15p16.1 deletion encompassing the entire <jats:italic>BCL11A<\/jats:italic> gene and displaying a similar phenotype, we characterize in depth how BCL11A is involved in clinical aspects of language development and oral praxis.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38479","type":"journal-article","created":{"date-parts":[[2017,9,28]],"date-time":"2017-09-28T15:34:58Z","timestamp":1506612898000},"page":"201-208","source":"Crossref","is-referenced-by-count":27,"title":["<i>BCL11A<\/i> frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems"],"prefix":"10.1002","volume":"176","author":[{"given":"Julie","family":"Soblet","sequence":"first","affiliation":[{"name":"Department of Genetics H\u00f4pital Universitaire des Enfants Reine Fabiola ULB Center of Human Genetics Universit\u00e9 Libre de Bruxelles Brussels Belgium"},{"name":"Department of Genetics H\u00f4pital Erasme ULB Center of Human Genetics Universit\u00e9 Libre de Bruxelles Brussels Belgium"},{"name":"Interuniversity Institute of Bioinformatics in Brussels Universit\u00e9 Libre de Bruxelles Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivan","family":"Dimov","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine ULB Universit\u00e9 Libre de Bruxelles Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clemens","family":"Graf von Kalckreuth","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology H\u00f4pital Universitaire des Enfants Reine Fabiola Universit\u00e9 Libre de Bruxelles Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie","family":"Cano\u2010Chervel","sequence":"additional","affiliation":[{"name":"Department of Child and Adolescent Psychiatry H\u00f4pital Universitaire des Enfants Reine Fabiola Universit\u00e9 Libre de Bruxelles Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simon","family":"Baijot","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology H\u00f4pital Universitaire des Enfants Reine Fabiola Universit\u00e9 Libre de Bruxelles Brussels Belgium"},{"name":"Department of Child and Adolescent Psychiatry H\u00f4pital Universitaire des Enfants Reine Fabiola Universit\u00e9 Libre de Bruxelles Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karin","family":"Pelc","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology H\u00f4pital Universitaire des Enfants Reine Fabiola Universit\u00e9 Libre de Bruxelles Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martine","family":"Sottiaux","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology H\u00f4pital Universitaire des Enfants Reine Fabiola Universit\u00e9 Libre de Bruxelles Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4443-9643","authenticated-orcid":false,"given":"Catheline","family":"Vilain","sequence":"additional","affiliation":[{"name":"Department of Genetics H\u00f4pital Universitaire des Enfants Reine Fabiola ULB Center of Human Genetics Universit\u00e9 Libre de Bruxelles Brussels Belgium"},{"name":"Department of Genetics H\u00f4pital Erasme ULB Center of Human Genetics Universit\u00e9 Libre de Bruxelles Brussels Belgium"},{"name":"Interuniversity Institute of Bioinformatics in Brussels Universit\u00e9 Libre de Bruxelles Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2845-6758","authenticated-orcid":false,"given":"Guillaume","family":"Smits","sequence":"additional","affiliation":[{"name":"Department of Genetics H\u00f4pital Universitaire des Enfants Reine Fabiola ULB Center of Human Genetics Universit\u00e9 Libre de Bruxelles Brussels Belgium"},{"name":"Department of Genetics H\u00f4pital Erasme ULB Center of Human Genetics Universit\u00e9 Libre de Bruxelles Brussels Belgium"},{"name":"Interuniversity Institute of Bioinformatics in Brussels Universit\u00e9 Libre de Bruxelles Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicolas","family":"Deconinck","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology H\u00f4pital Universitaire des Enfants Reine Fabiola Universit\u00e9 Libre de Bruxelles Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,9,27]]},"reference":[{"key":"e_1_2_6_2_1","unstructured":"American Speech Language Hearing Association (ASHA). 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