title: De novo microdeletion of BCL11A is associated with severe speech sound disorder.
abstract: In 10 cases of 2p15p16.1 microdeletions reported worldwide to date, shared phenotypes included growth retardation, craniofacial and skeletal dysmorphic traits, internal organ defects, intellectual disability, nonverbal or low verbal status, abnormal muscle tone, and gross motor delays. The size of the deletions ranged from 0.3 to 5.7 Mb, where the smallest deletion involved the BCL11A, PAPOLG, and REL genes. Here we report on an 11-year-old male with a heterozygous de novo 0.2 Mb deletion containing a single gene, BCL11A, and a phenotype characterized by childhood apraxia of speech and dysarthria in the presence of general oral and gross motor dyspraxia and hypotonia as well as expressive language and mild intellectual delays. BCL11A is situated within the dyslexia susceptibility candidate region 3 (DYX3) candidate region on chromosome 2. The present case is the first to involve a single gene within the microdeletion region and a phenotype restricted to a subset of the traits observed in other cases with more extensive deletions.
authors.affiliation: Department of Speech and Hearing Sciences, University of Washington, Seattle, Washington.
authors.forename: Beate
authors.initials: B
authors.lastname: Peter
authors.forename: Mark
authors.initials: M
authors.lastname: Matsushita
authors.forename: Kaori
authors.initials: K
authors.lastname: Oda
authors.forename: Wendy
authors.initials: W
authors.lastname: Raskind
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D056726:Genetic Association Studies; D006579:Heterozygote; D006801:Humans; D007806:Language Disorders / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D012097:Repressor Proteins; D012720:Severity of Illness Index; D066229:Speech Sound Disorder
chemical_list: C486563:BCL11A protein, human; D002352:Carrier Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins
keywords: 2p15p16.1 microdeletion syndrome; BCL11A; childhood apraxia of speech; dysarthria; intellectual disability; language impairment