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Article

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

Psychiatry research - 30 Sept 2015

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

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

Genes

EFCAB5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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