Whole-exome sequencing in a family with a monozygotic twin pair concordant for autism spectrum disorder and a follow-up study

Jun Egawa; Yuichiro Watanabe; Atsunori Sugimoto; Ayako Nunokawa; Masako Shibuya; Hirofumi Igeta; Emiko Inoue; Satoshi Hoya; Naoki Orime; Taketsugu Hayashi; Toshiro Sugiyama; Toshiyuki Someya

doi:10.1016/j.psychres.2015.07.018

Whole-exome sequencing in a family with a monozygotic twin pair concordant for autism spectrum disorder and a follow-up study

Psychiatry Res. 2015 Sep 30;229(1-2):599-601. doi: 10.1016/j.psychres.2015.07.018. Epub 2015 Jul 10.

Authors

Affiliations

¹ Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, 757 Asahimachidori-ichibancho, Chuo-ku, Niigata, Japan; Department of Pediatric Psychiatry, Center for Transdisciplinary Research, Niigata University, Niigata, Japan.
² Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, 757 Asahimachidori-ichibancho, Chuo-ku, Niigata, Japan; Department of Psychiatry, Uonuma Institute of Community Medicine, Niigata University Medical and Dental Hospital, Minamiunonuma, Niigata, Japan. Electronic address: yuichiro@med.niigata-u.ac.jp.
³ Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, 757 Asahimachidori-ichibancho, Chuo-ku, Niigata, Japan.
⁴ Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, 757 Asahimachidori-ichibancho, Chuo-ku, Niigata, Japan; Oojima Hospital, Sanjo, Niigata, Japan.
⁵ Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, 757 Asahimachidori-ichibancho, Chuo-ku, Niigata, Japan; Health Administration Center, Headquarters for Health Administration, Niigata University, Niigata, Japan.
⁶ Department of Child and Adolescent Psychiatry, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, Japan.

PMID: 26189338
DOI: 10.1016/j.psychres.2015.07.018

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.

Keywords: Japanese; Schizophrenia; Truncating variation.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Autism Spectrum Disorder / diagnosis*
Autism Spectrum Disorder / genetics*
Child
Exome / genetics*
Female
Follow-Up Studies
Genetic Predisposition to Disease / genetics*
Humans
Male
Middle Aged
Pedigree
Schizophrenia / diagnosis
Schizophrenia / genetics
Sequence Analysis, DNA* / methods
Twins, Monozygotic / genetics*
Young Adult