RESEARCH ARTICLE Mutation Burden of Rare Variants in Schizophrenia Candidate Genes

Background Schizophrenia (SCZ) is a very heterogeneous disease that affects approximately 1 % of the general population. Recently, the genetic complexity thought to underlie this condition was further supported by three independent studies that identified an increased number of dam-aging de novomutations DNM in different SCZ probands. While these three reports support the implication of DNM in the pathogenesis of SCZ, the absence of overlap in the genes identified suggests that the number of genes involved in SCZ is likely to be very large; a no-tion that has been supported by the moderate success of Genome-Wide Association Stud-ies (GWAS). Methods To further examine the genetic heterogeneity of this disease, we resequenced 62 genes that were found to have a DNM in SCZ patients, and 40 genes that encode for proteins known to interact with the products of the genes with DNM, in a cohort of 235 SCZ cases and 233 controls