{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T20:18:47Z","timestamp":1779221927405,"version":"3.51.4"},"reference-count":37,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2013,8,5]],"date-time":"2013-08-05T00:00:00Z","timestamp":1375660800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Australian Research Council (ARC) Discovery Project","award":["DP120100285"],"award-info":[{"award-number":["DP120100285"]}]},{"name":"National Health & Medical Research Council (NHMRC) CJ Martin Overseas Biomedical Postdoctoral Training Fellowship"},{"name":"NHMRC Dora Lush Postgraduate Scholarship"},{"name":"NHMRC Career Development Award","award":["607315"],"award-info":[{"award-number":["607315"]}]},{"name":"Victorian Government's Operational Infrastructure Support Program ARC Future Fellowship"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Relatively little is known about the neurobiological basis of speech disorders although genetic determinants are increasingly recognized. The first gene for primary speech disorder was <jats:italic>FOXP2<\/jats:italic>, identified in a large, informative family with verbal and oral dyspraxia. Subsequently, many de novo and familial cases with a severe speech disorder associated with <jats:italic>FOXP2<\/jats:italic> mutations have been reported. These mutations include sequencing alterations, translocations, uniparental disomy, and genomic copy number variants. We studied eight probands with speech disorder and their families. Family members were phenotyped using a comprehensive assessment of speech, oral motor function, language, literacy skills, and cognition. Coding regions of <jats:italic>FOXP2<\/jats:italic> were screened to identify novel variants. Segregation of the variant was determined in the probands' families. Variants were identified in two probands. One child with severe motor speech disorder had a small de novo intragenic <jats:italic>FOXP2<\/jats:italic> deletion. His phenotype included features of childhood apraxia of speech and dysarthria, oral motor dyspraxia, receptive and expressive language disorder, and literacy difficulties. The other variant was found in a family in two of three family members with stuttering, and also in the mother with oral motor impairment. This variant was considered a benign polymorphism as it was predicted to be non\u2010pathogenic with in silico tools and found in database controls. This is the first report of a small intragenic deletion of <jats:italic>FOXP2<\/jats:italic> that is likely to be the cause of severe motor speech disorder associated with language and literacy problems. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36055","type":"journal-article","created":{"date-parts":[[2013,8,5]],"date-time":"2013-08-05T19:20:10Z","timestamp":1375730410000},"page":"2321-2326","source":"Crossref","is-referenced-by-count":75,"title":["Small intragenic deletion in <i>FOXP2<\/i> associated with childhood apraxia of speech and dysarthria"],"prefix":"10.1002","volume":"161","author":[{"given":"Samantha J","family":"Turner","sequence":"first","affiliation":[{"name":"Department of Paediatrics, The Royal Children's Hospital The University of Melbourne Parkville Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael S.","family":"Hildebrand","sequence":"additional","affiliation":[{"name":"Department of Medicine The University of Melbourne, Austin Health Heidelberg Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan","family":"Block","sequence":"additional","affiliation":[{"name":"Department of Human Communication Sciences La Trobe University Bundoora Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Damiano","sequence":"additional","affiliation":[{"name":"Department of Medicine The University of Melbourne, Austin Health Heidelberg Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Fahey","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Monash University Clayton Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheena","family":"Reilly","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, The Royal Children's Hospital The University of Melbourne Parkville Victoria Australia"},{"name":"Population Health, Genes and Environment Theme Murdoch Childrens Research Institute Parkville Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melanie","family":"Bahlo","sequence":"additional","affiliation":[{"name":"Bioinformatics Division The Walter and Eliza Hall Institute of Medical Research Parkville Victoria Australia"},{"name":"Department of Mathematics and Statistics The University of Melbourne Parkville Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingrid E.","family":"Scheffer","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, The Royal Children's Hospital The University of Melbourne Parkville Victoria Australia"},{"name":"Department of Medicine The University of Melbourne, Austin Health Heidelberg Victoria Australia"},{"name":"Florey Institute Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela T.","family":"Morgan","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, The Royal Children's Hospital The University of Melbourne Parkville Victoria Australia"},{"name":"Population Health, Genes and Environment Theme Murdoch Childrens Research Institute Parkville Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,8,5]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1006\/brln.2000.2322"},{"key":"e_1_2_8_4_1","unstructured":"American Speech\u2010Language\u2010Hearing Association (ASHA).2007. 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