Identification and characterization of three inherited genomic copy number variations associated with familial schizophrenia

Hsiao Mei Liao, Yu Lin Chao, Ai Ling Huang, Min Chih Cheng, Yann Jang Chen, Kuei Fang Lee, Jye Siung Fang, Chih Hao Hsu, Chia Hsiang Chen*

*此作品的通信作者

研究成果: Article同行評審

32 引文 斯高帕斯(Scopus)

摘要

Schizophrenia is a complex mental disorder with high degree of genetic influence in its etiology. Several recent studies revealed that copy number variations (CNVs) of genomic DNA contributed significantly to the genetic architecture of sporadic schizophrenia. This study aimed to investigate whether CNVs also contribute to the familial forms of schizophrenia. Using array-based comparative genomic hybridization technology, we searched for pathogenic CNV associated with schizophrenia in a sample of 60 index cases from multiplex schizophrenia families. We detected three inherited CNVs that were associated with schizophrenia in three families, including a microdeletion of ~. 4.4. Mb at chromosome 6q12-q13, a microduplication of ~. 1. Mb at chromosome 18q12.3, and an interstitial duplication of ~. 5. Mb at chromosome 15q11.2-q13.1. Our data indicate that CNVs contribute to the genetic underpinnings of the familial forms of schizophrenia as well as of the sporadic form. As 15q11-13 duplication is a well-known recurrent CNV associated with autism in the literature, the detection of the 15q11.2-q13.1 duplication in our schizophrenia patients provides additional support to other studies reporting that schizophrenia is part of the clinical spectrum of 15q11-q13 duplication syndrome.

原文English
頁(從 - 到)229-236
頁數8
期刊Schizophrenia Research
139
發行號1-3
DOIs
出版狀態Published - 8月 2012

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