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

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...

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Autores principales:	Akahoshi K, Yamamoto T
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2018
Materias:	chromosomal microarray psychiatric disorder autism spectrum disorders (ASD) Wnt pathway Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/bd215f074fdc45d6ba459e2a59195090
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spelling	oai:doaj.org-article:bd215f074fdc45d6ba459e2a591950902021-12-02T11:20:52ZInterstitial deletion within 7q31.1q31.3 in a woman with mild intellectual disability and schizophrenia1178-2021https://doaj.org/article/bd215f074fdc45d6ba459e2a591950902018-07-01T00:00:00Zhttps://www.dovepress.com/interstitial-deletion-within-7q311q313-in-a-woman-with-mild-intellectu-peer-reviewed-article-NDThttps://doaj.org/toc/1178-2021Keiko 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 pathwayAkahoshi KYamamoto TDove Medical Pressarticlechromosomal microarraypsychiatric disorderautism spectrum disorders (ASD)Wnt pathwayNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571Neurology. Diseases of the nervous systemRC346-429ENNeuropsychiatric Disease and Treatment, Vol Volume 14, Pp 1773-1778 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	chromosomal microarray psychiatric disorder autism spectrum disorders (ASD) Wnt pathway Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
spellingShingle	chromosomal microarray psychiatric disorder autism spectrum disorders (ASD) Wnt pathway Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429 Akahoshi K Yamamoto T Interstitial deletion within 7q31.1q31.3 in a woman with mild intellectual disability and schizophrenia
description	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
format	article
author	Akahoshi K Yamamoto T
author_facet	Akahoshi K Yamamoto T
author_sort	Akahoshi K
title	Interstitial deletion within 7q31.1q31.3 in a woman with mild intellectual disability and schizophrenia
title_short	Interstitial deletion within 7q31.1q31.3 in a woman with mild intellectual disability and schizophrenia
title_full	Interstitial deletion within 7q31.1q31.3 in a woman with mild intellectual disability and schizophrenia
title_fullStr	Interstitial deletion within 7q31.1q31.3 in a woman with mild intellectual disability and schizophrenia
title_full_unstemmed	Interstitial deletion within 7q31.1q31.3 in a woman with mild intellectual disability and schizophrenia
title_sort	interstitial deletion within 7q31.1q31.3 in a woman with mild intellectual disability and schizophrenia
publisher	Dove Medical Press
publishDate	2018
url	https://doaj.org/article/bd215f074fdc45d6ba459e2a59195090
work_keys_str_mv	AT akahoshik interstitialdeletionwithin7q311q313inawomanwithmildintellectualdisabilityandschizophrenia AT yamamotot interstitialdeletionwithin7q311q313inawomanwithmildintellectualdisabilityandschizophrenia
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Interstitial deletion within 7q31.1q31.3 in a woman with mild intellectual disability and schizophrenia

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