De novo microdeletion of BCL11A is associated with severe speech sound disorder

Original research article by B. Peter et al. (2014).

Read the abstract here.

Work by previous researchers has shown that deletions of the chromosome region 2p15p16.1, which includes the BCL11A gene, are associated with features such as poor growth and short height, differences in facial and skeletal features, small head size, impaired vision, low muscle tone, kidney problems, intellectual disability, autistic behaviors, speech and language problems and attention deficit disorder. This article reports on a person in whom only the BCL11A gene is deleted and whose characteristics may suggest which features are specifically associated with this gene. This person’s deletion of BCL11A was s found to be de novo (not inherited from either parent). Like the other reported cases, he has low muscle tone. However, his intellectual disability was relatively mild, he does not have differences in facial and skeletal features or problems with growth, and his verbal abilities are above average among those with a BCL11A deletion. He has difficulty with articulation and problems with controlling saliva, chewing, and swallowing; this may be caused by low muscle tone. He also has a diagnosis of a speech impairment in which the brain has trouble making the mouth, lips, and tongue move correctly. This case report suggests that the BCL11A gene may affect the development of speech and language abilities, and it may play a role in early brain development and its subsequent impact on language issues.