Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

Original research article by C. Halgren et al. (2012).

Read the abstract here.

This study found that ARID1B is important in human brain development and function in general, in the development of a region of the brain called the corpus callosum, and in speech development. The corpus callosum works to transfer cognitive, sensory, and motor information between the left and right hemispheres of the brain. The study describes eight people with ARID1B changes (all de novo, or not inherited from a parent). The group consisted of six females and two males, some of whom were adults.