De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.

ABSTRACT: Exome sequencing has readily enabled the discovery of the genetic mutations responsible for a wide range of diseases. This success has been particularly remarkable in the severe epilepsies and other neurodevelopmental diseases for which rare, often de novo, mutations play a significant role in disease risk. Despite significant progress, the high genetic heterogeneity of these disorders often requires large sample sizes to identify a critical mass of individuals with disease-causing mutations in a single gene. By pooling genetic findings across multiple studies, we have identified six individuals with severe developmental delay (6/6), refractory seizures (5/6), and similar dysmorphic features (3/6), each harboring a de novo mutation in PPP3CA. PPP3CA encodes the alpha isoform of a subunit o

SUBMITTER: Myers CT 

PROVIDER: S-EPMC5630160 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature