Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features

Original research article by V. Tucci et al. (2014).

Read the abstract here.

This study shares detailed information about four people who have changes in the CTNNB1 gene. All four have a degree of intellectual disability, features of autism, low muscle tone, a smaller-than-average head size, subtle facial differences, and differences in brain structure such as an underdeveloped corpus callosum, the structure that allows the two sides of the brain to work together.

The study also used mouse models to examine behavior, learning, and physical traits, as well as differences in the structure, size, shape, and appearance of the brain throughout development. The researchers found that CTNNB1 is involved in brain development and that changes in it can lead to the features seen in the people studied.