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Significance Schizophrenia and autism are severe, lifelong brain disorders with complex etiology and high prevalence. A strong link has been established between both disorders and de novo copy number variants, but the culprit genes remain unknown. This study uses whole-exome sequencing data and a new statistical method based on detecting clusters of rare disease-associated variants to identify the responsible gene(s) within genomic regions affected by de novo copy number variants. We discovered a new gene on chromosome 15q13.3 [Fanconi-associated nuclease 1 (FAN1 )], which contains rare risk variants for both schizophrenia and autism.FAN1 encodes a DNA repair enzyme, thus implicating abnormalities in DNA repair in the genetic component and as potential drug targets in psychiatric and neurodevelopmental disorders.

Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism