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Interstitial deletion within 7q31.1q31.3 in a woman with mild intellectual disability and schizophrenia

Authors Akahoshi K, Yamamoto T

Received 17 March 2018

Accepted for publication 9 May 2018

Published 5 July 2018 Volume 2018:14 Pages 1773—1778

DOI https://doi.org/10.2147/NDT.S168469

Checked for plagiarism Yes

Review by Single-blind

Peer reviewers approved by Dr Colin Mak

Peer reviewer comments 2

Editor who approved publication: Dr Taro Kishi


Keiko Akahoshi,1 Toshiyuki Yamamoto2

1Department of Pediatrics, Tokyo Children’s Rehabilitation Hospital, Tokyo, Japan; 2Institute of Medical Genetics, Tokyo Women’s Medical University, Tokyo, Japan

Abstract: We report the case of a Japanese woman with an interstitial deletion within the 7q31.1q31.3 region, she presented with mild intellectual disability since infancy, and later developed characteristic psychiatric manifestations, including abnormal behavior, delusions, and hallucinations. She was diagnosed with paranoid schizophrenia (F20.0, International Statistical Classification of Diseases and Related Health Problems 10th Revision). Array comparative genomic hybridization examination revealed the deletion involving several important genes for neurodevelopment. Particularly, FOXP2, DOCK4, MET, and WNT2 in this region are suggested to be related to language impairment, autistic disorders, and cognitive disorders, via the WNT pathway. In addition, the WNT signal pathway has been suggested to be implicated in the pathogenesis of psychiatric disorders such as schizophrenia and bipolar disorder. However, there is no case report regarding schizophrenia associated with a 7q31 microdeletion. We suspect that the disruptions of these one or plural genes among the interstitial deletion of 7q31.1q31.3 may be involved in the development of schizophrenia in this woman. This is the first report on schizophrenia associated with a 7q31 microdeletion.

Keywords: chromosomal microarray, psychiatric disorder, autism spectrum disorder, ASD, Wnt pathway

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