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Article

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

American journal of medical genetics. Part A - 1 Jan 2018

Soblet Julie, Dimov Ivan, Graf von Kalckreuth Clemens, Cano-Chervel Julie, Baijot Simon, Pelc Karin, Sottiaux Martine, Vilain Catheline, Smits Guillaume, Deconinck Nicolas

Abstract excerpt

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...

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Identifiers

PMID: 28960836
DOI: 10.1002/ajmg.a.38479
PMCID: PMC5765401

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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