<p>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, <a href="https://www.ncbi.nlm.nih.gov/gene/2771">GNAI2</a>, encoding the Gαi2 protein. We define a new Congenital Disorder associated with Gαi2 mutations and downstream functional effects.</p>

Mutations in GNAI2 Cause Developmental Abnormalities and Immune    Dysregulation

Congenital Abnormalities study with SNP/CNV Genotypes (NGS) data on dbGaP (23 participants)