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

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

Acknowledgments

We would like to thank the patient’s family for their written informed consent to publish this case report and photographs. We also acknowledge the DECIPHER database for checking overlapping deletions. We are grateful to the technicians from our laboratories, including Ms Yumiko Ondo for her skillful help. This research was supported by the Practical Research Project for Rare/Intractable Diseases from the Japan Agency for Medical Research and Development (AMED), and the Japan Society for the Promotion of Science (JSPS) KAKENHI grant number 15K09631 (TY).

Disclosure

The authors report no conflicts of interest in this work.