{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T05:08:03Z","timestamp":1784696883884,"version":"3.55.0"},"reference-count":46,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2022,7,20]],"date-time":"2022-07-20T00:00:00Z","timestamp":1658275200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>BCL11A<\/jats:italic> is implicated in BCL11A\u2010Related Intellectual Development Disorder (BCL11A\u2010IDD). Previously reported cases had various types of <jats:italic>BCL11A<\/jats:italic> variants (copy\u2010number variations [CNVs], singlenucleotide variants [SNVs]). Phenotypes included global, cognitive, and motor delays, autism spectrum disorder (ASD), craniofacial dysmorphology, and speech and language delays described generally, with only two reports specifying childhood apraxia of speech (CAS). Here, we present three additional children with CAS and de novo <jats:italic>BCL11A<\/jats:italic> variants, a p.Ala182Thr nonconservative missense and a p.GLu611.Ter nonsense variant, both in exon 4, and a 106\u2009kb deletion harboring exons 1 and 2. All three children have fine and gross motor discoordination, feeding difficulties, and visual motor disorders. Intellectual and learning disabilities and disordered language skills were seen only in the child with the missense variant and the child with the deletion. These findings align with, and expand, previous findings in that <jats:italic>BCL11A<\/jats:italic> variants have significant and highly penetrant apraxic effects across motor systems, consistent with cerebellar involvement. The deletion of exons 1 and 2 is the smallest <jats:italic>BCL11A<\/jats:italic> CNV with the full phenotypic expression reported to date. The present results support previous findings in that BCL11A\u2010IDD can result from <jats:italic>BCL11A<\/jats:italic> variants regardless of type (deletion, SNVs). A gene expression study shows that <jats:italic>BCL11<\/jats:italic> is expressed highly in the early developing cerebellum and primary motor and auditory cortices. Significant co\u2010expression rates in these regions with genes previously implicated in disorders of spoken language and in ASD support the phenotypic overlaps in children with BCL11A\u2010IDD, CAS, and ASD.<\/jats:p>","DOI":"10.1002\/ajmg.a.62904","type":"journal-article","created":{"date-parts":[[2022,7,20]],"date-time":"2022-07-20T08:03:38Z","timestamp":1658304218000},"page":"3401-3415","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Three children with different de novo <scp><i>BCL11A<\/i><\/scp> variants and diverse developmental phenotypes, but shared global motor discoordination and apraxic speech: Evidence for a functional gene network influencing the developing cerebellum and motor and auditory cortices"],"prefix":"10.1002","volume":"188","author":[{"given":"Laurel","family":"Bruce","sequence":"first","affiliation":[{"name":"College of Health Solutions Arizona State University  Tempe Arizona USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9083-8522","authenticated-orcid":false,"given":"Beate","family":"Peter","sequence":"additional","affiliation":[{"name":"College of Health Solutions Arizona State University  Tempe Arizona USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,7,20]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41593-021-00872-y"},{"key":"e_1_2_7_3_1","unstructured":"American Speech\u2010Language\u2010Hearing Association. 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