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....

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Bibliographic Details
Published in:Psychiatry research 2015-09, Vol.229 (1), p.599-601
Main 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
Format: Article
Language:English
Subjects:
Adolescent
Adult
Autism Spectrum Disorder - diagnosis
Autism Spectrum Disorder - genetics
Child
Exome - genetics
Female
Follow-Up Studies
Genetic Predisposition to Disease - genetics
Humans
Japanese
Male
Middle Aged
Pedigree
Psychiatry
Schizophrenia
Schizophrenia - diagnosis
Schizophrenia - genetics
Sequence Analysis, DNA - methods
Truncating variation
Twins, Monozygotic - genetics
Young Adult
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Summary: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.
ISSN:0165-1781
1872-7123
DOI:10.1016/j.psychres.2015.07.018