| 1 | Psychiatry Res 2015 Sep 229: 599-601 |
|---|---|
| PMID | 26189338 |
| Title | Whole-exome sequencing in a family with a monozygotic twin pair concordant for autism spectrum disorder and a follow-up study. |
| Abstract | Two truncating variations (WDR90 V1125fs and EFCAB5 L1210fs), identified by whole-exome sequencing in a family with a monozygotic twin pair concordant for autism spectrum disorder (ASD), were not detected in 257 ASD patients, 677 schizophrenia patients or 667 controls in a follow-up study. Thus, these variations were exclusively identified in the family, suggesting that rare truncating variations may have a role in the genetic etiology of ASD, at least in a subset of ASD patients. |
| SCZ Keywords | schizophrenia |