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Detection and interpretation of de novo mutations and structural genomic variations in mental retardation

Final Report Summary - DENOVO (Detection and interpretation of de novo mutations and structural genomic variations in mental retardation)

This ERC project has allowed scientists to demonstrate that new mutations in the DNA, arising mostly during production of sperm, are the major cause of severe forms of intellectual disability. This insight was obtained by applying and optimizing new genetics approaches to analyse the entire genome of patients and their healthy parents. The results from this research are of great importance for patients with severe intellectual disability and their families: Finally they can learn about the cause of the disorder and obtain information that is relevant to their specific type of intellectual disability. In addition, the research pointed to older age in fathers as a major risk factor for severe intellectual disability in their children, and demonstrated that parents with a child with severe intellectual disability are not at increased risk for having children with the same disorder in future pregnancies.