Rare mutations key to brain disorders

Severe disease-causing variants often unique to those affected

By Tina Hesman Saey, 17:02 PM November 12, 2010

Many of the mutations that cause brain disorders are not inherited, new research on the genetics of mental retardation suggests, but are rare DNA variants that pop up for the first time in affected people.

A study published online November 14 in Nature Genetics highlights the importance of rare genetic variants in causing disease, and shows that disrupting even one copy of certain genes can have profound consequences for brain development and mental abilities, says James Lupski, a clinical ...

Source URL: https://www.sciencenews.org/article/rare-mutations-key-brain-disorders