A new method for identifying rare genetic disorders has led to the discovery of genetic variants that underlie some neurocognitive disorders. The study is published online this week in Nature Genetics.
Neuropsychiatric disorders, such as developmental delays and intellectual disability disorders, are often associated with very rare genetic alterations. In some cases, these alterations affect only a single gene and are very difficult to identify. Other cases involve the deletion or duplication of large regions of the chromosomes that are easy to find but that affect many genes.
Evan Eichler and colleagues created an extensive map of these deletion or duplication regions, called copy number variants (CNVs), using data from 29,085 children with developmental delays. They integrated this information with known single-gene mutations in developmental disorders, and found ten genetic variants that could lead to one of these disorders. Two genes in particular, SETBP1 and ZMYND11, were found to underlie new disorders. Patients with mutations in SETBP1 were also found to have intellectual disabilities and language impairments. Patients with mutations in ZMYND11 were found to have diverse features, including autism, aggression and ADHD.