Association of IMMP2Ldeletions with autism spectrum disorder: A trio family study and meta‐analysis

IMMP2L, the gene encoding the inner mitochondrial membrane peptidase subunit 2‐like protein, has been reported as a candidate gene for Tourette syndrome, autism spectrum disorder (ASD) and additional neurodevelopmental disorders. Here we genotyped 100 trio families with an index proband with autism spectrum disorder in Han Chinese population and found three cases with rare exonic IMMP2Ldeletions. We have conducted a comprehensive meta‐analysis to quantify the association of IMMP2Ldeletions with ASD using 5,568 cases and 10,279 controls. While the IMMP2Ldeletions carried non‐recurrent breakpoints, in contrast to previous reports, our meta‐analysis found no evidence of association (P > 0.05) between IMMP2Ldeletions and ASD. We also observed common exonic deletions impacting IMMP2Lin a separate control (5,971 samples) cohort where subjects were screened for psychiatric conditions. This is the first systematic review and meta‐analysis regarding the effect of IMMP2Ldeletions on ASD, but further investigations in different populations, especially Chinese population may be still needed to confirm our results.