Eduardo A Maury, Maxwell A Sherman, Giulio Genovese, Thomas G Gilgenast, Tushar Kamath, S J Burris, Prashanth Rajarajan, Erin Flaherty, Schahram Akbarian, Andrew Chess, Steven A McCarroll, Po-Ru Loh, Jennifer E Phillips-Cremins, Kristen J Brennand, Evan Z Macosko, James T R Walters, Michael O'Donovan, Patrick Sullivan, Jonathan Sebat, Eunjung A Lee, Christopher A Walsh
While germline copy-number variants (CNVs) contribute to schizophrenia (SCZ) risk, the contribution of somatic CNVs (sCNVs)-present in some but not all cells-remains unknown. We identified sCNVs using blood-derived genotype arrays from 12,834 SCZ cases and 11,648 controls, filtering sCNVs at loci recurrently mutated in clonal blood disorders. Likely early-developmental sCNVs were more common in cases (0.91%) than controls (0.51%, p = 2.68e-4), with recurrent somatic deletions of exons 1-5 of the NRXN1 gene in five SCZ cases...
August 9, 2023: Cell Genom