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BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems.

par Soblet, Julie ;Dimov, Ivan ;Graf von Kalckreuth, Clemens;Cano-Chevrel, Julie;Baijot, Simon ;Pelc, Karine ;Sottiaux, Martine;Vilain, Catheline ;Smits, Guillaume ;Deconinck, Nicolas
Référence American journal of medical genetics. Part A, 176, 1, page (201-208)
Publication Publié, 2017-09

Article révisé par les pairs

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Résumé :

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 previously described patient with a 200 kb 2p15p16.1 deletion encompassing the entire BCL11A gene and displaying a similar phenotype, we characterize in depth how BCL11A is involved in clinical aspects of language development and oral praxis.