BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems.
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ABSTRACT:
SUBMITTER: Soblet J
PROVIDER: S-EPMC5765401 | biostudies-literature | 2018 Jan
REPOSITORIES: biostudies-literature
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BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems.
Soblet Julie J Dimov Ivan I Graf von Kalckreuth Clemens C Cano-Chervel Julie J Baijot Simon S Pelc Karin K Sottiaux Martine M Vilain Catheline C Smits Guillaume G Deconinck Nicolas N
American journal of medical genetics. Part A 20170927 1
We report the case of a 7-year-old male of Western European origin presenting with moderate intellectual disability, severe childhood apraxia of speech in the presence of oral and manual dyspraxia, and hypotonia across motor systems including the oral and speech motor systems. Exome sequencing revealed a de novo frameshift protein truncating mutation in the fourth exon of BCL11A, a gene recently demonstrated as being involved in cognition and language development. Making parallels with a previou ...[more]
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