Mutations in GNAI2 Cause Developmental and Immune Dysregulation

To define a genetic syndrome of dysmorphism, brain malformations, skeletal defects, endocrine and immune dysfunction, 11 patients from 11 unrelated families who had similar features were studied. Whole exome sequencing was performed to identify disease-causing mutations. A disease segregated with de-novo or autosomal dominant mutations in a single gene, GNAI2, encoding the Gαi2 protein. We define a new Congenital Disorder associated with Gαi2 mutations and downstream functional effects.]]>
Patient samples were chosen for inclusion in the project based on the following criteria:
Families that had syndromic features were studied
Patients, parents and other family members were available
DNA was available for use in WES or WGS sequencing
Informed consent documentation was provided]]>