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BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems
Author(s) -
Soblet Julie,
Dimov Ivan,
Graf von Kalckreuth Clemens,
CanoChervel Julie,
Baijot Simon,
Pelc Karin,
Sottiaux Martine,
Vilain Catheline,
Smits Guillaume,
Deconinck Nicolas
Publication year - 2018
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38479
Subject(s) - frameshift mutation , hypotonia , intellectual disability , exome sequencing , psychology , apraxia , genetics , exon , mutation , medicine , audiology , biology , gene , neuroscience , aphasia
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.