De novo microdeletion of BCL11A is associated with severe speech sound disorder

Beate Peter, Mark Matsushita, Kaori Oda, Wendy Raskind

Research output: Contribution to journalArticle

42 Scopus citations

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 5.7Mb, 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 0.2Mb 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.

Original languageEnglish (US)
Pages (from-to)2091-2096
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume164
Issue number8
DOIs
StatePublished - Aug 2014
Externally publishedYes

Keywords

  • 2p15p16.1 microdeletion syndrome
  • BCL11A
  • Childhood apraxia of speech
  • Dysarthria
  • Intellectual disability
  • Language impairment

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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