Developing a screening strategy for a rare mutation associated with developmental language disorder

More than 5% of children suffer developmental language disorder (DLD), an impairment that will affect their education, work, social interactions and will have a long term impact in their health. This disorder has a significant genetic component but very few susceptibility genes have been identified. One of this genes is ATP2C2. Recently, a rare mutation in ATP2C2 has been found associated with DLD by two independent studies. This project will work on developing a screening assay for this mutation, and applying it to a cohort of children (N>2000) affected by language related disorders to evaluate its impact.