Cargando…

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

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 revea...

Descripción completa

Detalles Bibliográficos
Autores principales: Soblet, Julie, Dimov, Ivan, Graf von Kalckreuth, Clemens, Cano‐Chervel, Julie, Baijot, Simon, Pelc, Karin, Sottiaux, Martine, Vilain, Catheline, Smits, Guillaume, Deconinck, Nicolas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5765401/
https://www.ncbi.nlm.nih.gov/pubmed/28960836
http://dx.doi.org/10.1002/ajmg.a.38479
_version_ 1783292227061022720
author Soblet, Julie
Dimov, Ivan
Graf von Kalckreuth, Clemens
Cano‐Chervel, Julie
Baijot, Simon
Pelc, Karin
Sottiaux, Martine
Vilain, Catheline
Smits, Guillaume
Deconinck, Nicolas
author_facet Soblet, Julie
Dimov, Ivan
Graf von Kalckreuth, Clemens
Cano‐Chervel, Julie
Baijot, Simon
Pelc, Karin
Sottiaux, Martine
Vilain, Catheline
Smits, Guillaume
Deconinck, Nicolas
author_sort Soblet, Julie
collection PubMed
description 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.
format Online
Article
Text
id pubmed-5765401
institution National Center for Biotechnology Information
language English
publishDate 2017
publisher John Wiley and Sons Inc.
record_format MEDLINE/PubMed
spelling pubmed-57654012018-01-17 BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems Soblet, Julie Dimov, Ivan Graf von Kalckreuth, Clemens Cano‐Chervel, Julie Baijot, Simon Pelc, Karin Sottiaux, Martine Vilain, Catheline Smits, Guillaume Deconinck, Nicolas Am J Med Genet A Clinical Reports 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. John Wiley and Sons Inc. 2017-09-27 2018-01 /pmc/articles/PMC5765401/ /pubmed/28960836 http://dx.doi.org/10.1002/ajmg.a.38479 Text en © 2017 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial (http://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Clinical Reports
Soblet, Julie
Dimov, Ivan
Graf von Kalckreuth, Clemens
Cano‐Chervel, Julie
Baijot, Simon
Pelc, Karin
Sottiaux, Martine
Vilain, Catheline
Smits, Guillaume
Deconinck, Nicolas
BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems
title BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems
title_full BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems
title_fullStr BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems
title_full_unstemmed BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems
title_short BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems
title_sort bcl11a frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems
topic Clinical Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5765401/
https://www.ncbi.nlm.nih.gov/pubmed/28960836
http://dx.doi.org/10.1002/ajmg.a.38479
work_keys_str_mv AT sobletjulie bcl11aframeshiftmutationassociatedwithdyspraxiaandhypotoniaaffectingthefinegrossoralandspeechmotorsystems
AT dimovivan bcl11aframeshiftmutationassociatedwithdyspraxiaandhypotoniaaffectingthefinegrossoralandspeechmotorsystems
AT grafvonkalckreuthclemens bcl11aframeshiftmutationassociatedwithdyspraxiaandhypotoniaaffectingthefinegrossoralandspeechmotorsystems
AT canocherveljulie bcl11aframeshiftmutationassociatedwithdyspraxiaandhypotoniaaffectingthefinegrossoralandspeechmotorsystems
AT baijotsimon bcl11aframeshiftmutationassociatedwithdyspraxiaandhypotoniaaffectingthefinegrossoralandspeechmotorsystems
AT pelckarin bcl11aframeshiftmutationassociatedwithdyspraxiaandhypotoniaaffectingthefinegrossoralandspeechmotorsystems
AT sottiauxmartine bcl11aframeshiftmutationassociatedwithdyspraxiaandhypotoniaaffectingthefinegrossoralandspeechmotorsystems
AT vilaincatheline bcl11aframeshiftmutationassociatedwithdyspraxiaandhypotoniaaffectingthefinegrossoralandspeechmotorsystems
AT smitsguillaume bcl11aframeshiftmutationassociatedwithdyspraxiaandhypotoniaaffectingthefinegrossoralandspeechmotorsystems
AT deconincknicolas bcl11aframeshiftmutationassociatedwithdyspraxiaandhypotoniaaffectingthefinegrossoralandspeechmotorsystems