Rare nonsynonymous variants in the FAN1 gene were found to cluster significantly in individuals affected with ASD and schizophrenia within a 20-kb window that spans several key functional domains of the gene (Ionita-Laza et al., 2013). In particular, a missense variant within the FAN1 gene that displayed a 4/0 transmitted/untransmitted ratio in schizophrenia patients was also found to have an increased frequency in ASD cases compared to controls (0.018 vs. 0.008; Barnard test one-sided P=0.039) and compared to 4600 European Americans in the NHLBI Exome Variant Server (0.018 vs. 0.0079; Barnard test one-side P=0.004).
Molecular Function
Nuclease required for maintenance of chromosomal stability. Plays a key role in DNA repair of DNA interstrand cross-links (ICL). Defects in this gene are associated with Interstitial nephritis, karyomegalic (KMIN) (MIM:614817).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism.
