Whole-exome sequencing in a family with a monozygotic twin pair concordant for autism spectrum disorder and a follow-up study. Issue 1 (30th September 2015)

• Record Type: Journal Article
• Authors: Egawa, Jun; Watanabe, Yuichiro; Sugimoto, Atsunori; Nunokawa, Ayako; Shibuya, Masako; Igeta, Hirofumi; Inoue, Emiko; Hoya, Satoshi; Orime, Naoki; Hayashi, Taketsugu; Sugiyama, Toshiro; Someya, Toshiyuki
• Is Part Of: Psychiatry research. Volume 229:Issue 1/2(2015)
• Page Start: 599
• Page End: 601
• Publication Date: 2015-09-30
• Subjects: Japanese -- Schizophrenia -- Truncating variation; Psychiatry -- Periodicals; Psychiatry -- periodicals; Psychiatrie -- Périodiques; 616.89
• DOI: 10.1016/j.psychres.2015.07.018
• Languages: English
• ISSNs: 0165-1781

Abstract

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. Highlights: Whole-exome sequencing identified two truncating variations in a family with ASD. These variations were not detected in 1601 individuals in a follow-up study. Rare truncating variations may have a role in the genetic etiology of ASD.