Common genetic variants contribute to risk of rare severe neurodevelopmental disorders.

ABSTRACT: There are thousands of rare human disorders that are caused by single deleterious, protein-coding genetic variants¹. However, patients with the same genetic defect can have different clinical presentations^2-4, and some individuals who carry known disease-causing variants can appear unaffected⁵. Here, to understand what explains these differences, we study a cohort of 6,987 children assessed by clinical geneticists to have severe neurodevelopmental disorders such as global developmental delay and autism, often in combination with abnormalities of other organ systems. Although the genetic causes of these neurodevelopmental disorders are expected to be almost entirely monogenic, we show that 7.7% of variance in risk is attributable to inherited common genetic

SUBMITTER: Niemi MEK 

PROVIDER: S-EPMC6726472 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature