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

被引:6
|
作者
Akahoshi, Keiko [1 ]
Yamamoto, Toshiyuki [2 ]
机构
[1] Tokyo Childrens Rehabil Hosp, Dept Pediat, Tokyo, Japan
[2] Tokyo Womens Med Univ, Inst Med Genet, Tokyo, Japan
来源
NEUROPSYCHIATRIC DISEASE AND TREATMENT | 2018年 / 14卷
基金
日本学术振兴会;
关键词
chromosomal microarray; psychiatric disorder; autism spectrum disorder; ASD; Wnt pathway; DENDRITIC SPINE FORMATION; DEVELOPMENTAL DELAY; LANGUAGE IMPAIRMENT; FOXP2; GENE; SPEECH; DISORDER; AUTISM; DOCK4; ASSOCIATION; POPULATION;
D O I
10.2147/NDT.S168469
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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.
引用
收藏
页码:1773 / 1778
页数:6
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