Sep, 2015
Whole-exome sequencing in a family with a monozygotic twin pair concordant for autism spectrum disorder and a follow-up study
PSYCHIATRY RESEARCH
- Volume
- 229
- Number
- 1-2
- First page
- 599
- Last page
- 601
- Language
- English
- Publishing type
- Research paper (scientific journal)
- DOI
- 10.1016/j.psychres.2015.07.018
- Publisher
- ELSEVIER IRELAND LTD
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. (C) 2015 Elsevier Ireland Ltd. All rights reserved.
- Link information
- ID information
-
- DOI : 10.1016/j.psychres.2015.07.018
- ISSN : 0165-1781
- Pubmed ID : 26189338
- Web of Science ID : WOS:000360772600090