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

被引：8

作者：

Egawa, Jun ^{[1
,2
]}

Watanabe, Yuichiro ^{[1
,3
]}

Sugimoto, Atsunori ^{[1
]}

Nunokawa, Ayako ^{[1
,4
]}

Shibuya, Masako ^{[1
,5
]}

Igeta, Hirofumi ^{[1
]}

Inoue, Emiko ^{[1
]}

Hoya, Satoshi ^{[1
]}

Orime, Naoki ^{[1
]}

Hayashi, Taketsugu ^{[1
]}

Sugiyama, Toshiro ^{[6
]}

Someya, Toshiyuki ^{[1
]}

机构：

[1] Niigata Univ, Gradu Sch Med & Dent Sci, Dept Psychiat, Chuo Ku, Niigata 9518510, Japan

[2] Niigata Univ, Ctr Transdisciplinary Res, Dept Pediat Psychiat, Niigata 9518510, Japan

[3] Niigata Univ, Med & Dent Hosp, Uonuma Inst Community Med, Dept Psychiat, Niigata 9518510, Japan

[4] Oojima Hosp, Sanjo, Niigata, Japan

[5] Niigata Univ, Headquarters Hlth Adm, Hlth Adm Ctr, Niigata 9518510, Japan

[6] Hamamatsu Univ, Sch Med, Dept Child & Adolescent Psychiat, Hamamatsu, Shizuoka 4312102, Japan

来源：

PSYCHIATRY RESEARCH | 2015年 / 229卷 / 1-2期

关键词：

Japanese; Schizophrenia; Truncating variation; JAPANESE POPULATION; ASSOCIATION; RISK; GENE;

D O I：

10.1016/j.psychres.2015.07.018

中图分类号：

R749 [精神病学];

学科分类号：

100205 ;

摘要：

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.

引用

页码：599 / 601

页数：3

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