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.
authors.affiliation: 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.
authors.forename: Jun
authors.initials: J
authors.lastname: Egawa
authors.affiliation: 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.
authors.forename: Yuichiro
authors.initials: Y
authors.lastname: Watanabe
authors.affiliation: Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, 757 Asahimachidori-ichibancho, Chuo-ku, Niigata, Japan.
authors.forename: Atsunori
authors.initials: A
authors.lastname: Sugimoto
authors.affiliation: Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, 757 Asahimachidori-ichibancho, Chuo-ku, Niigata, Japan; Oojima Hospital, Sanjo, Niigata, Japan.
authors.forename: Ayako
authors.initials: A
authors.lastname: Nunokawa
authors.affiliation: 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.
authors.forename: Masako
authors.initials: M
authors.lastname: Shibuya
authors.affiliation: Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, 757 Asahimachidori-ichibancho, Chuo-ku, Niigata, Japan.
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Igeta
authors.affiliation: Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, 757 Asahimachidori-ichibancho, Chuo-ku, Niigata, Japan.
authors.forename: Emiko
authors.initials: E
authors.lastname: Inoue
authors.affiliation: Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, 757 Asahimachidori-ichibancho, Chuo-ku, Niigata, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Hoya
authors.affiliation: Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, 757 Asahimachidori-ichibancho, Chuo-ku, Niigata, Japan.
authors.forename: Naoki
authors.initials: N
authors.lastname: Orime
authors.affiliation: Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, 757 Asahimachidori-ichibancho, Chuo-ku, Niigata, Japan.
authors.forename: Taketsugu
authors.initials: T
authors.lastname: Hayashi
authors.affiliation: Department of Child and Adolescent Psychiatry, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, Japan.
authors.forename: Toshiro
authors.initials: T
authors.lastname: Sugiyama
authors.affiliation: Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, 757 Asahimachidori-ichibancho, Chuo-ku, Niigata, Japan.
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Someya
mesh_terms: D000293:Adolescent; D000328:Adult; D000067877:Autism Spectrum Disorder / Q000175:diagnosis* / Q000235:genetics*; D002648:Child; D059472:Exome / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012559:Schizophrenia / Q000175:diagnosis / Q000235:genetics; D017422:Sequence Analysis, DNA / Q000379:methods; D014430:Twins, Monozygotic / Q000235:genetics*; D055815:Young Adult
keywords: Japanese; Schizophrenia; Truncating variation