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High Frequency of Known Copy Number Abnormalities and Maternal Duplication 15Q11-q13 in Patients with Combined Schizophrenia and Epilepsy by Larissa R Stewart; April L Hall; Sung-Hae L Kang; Chad A Shaw; Arthur L Beaudet is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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## Background Many copy number variants (CNVs) are documented to be associated with neuropsychiatric disorders, including intellectual disability, autism, epilepsy, schizophrenia, and bipolar disorder. Chromosomal deletions of 1q21.1, 3q29, 15q13.3, 22q11.2, and __NRXN1__ and duplications of 15q11-q13 (maternal), 16p11, and 16p13.3 have the strongest association with schizophrenia. We hypothesized that cases with both schizophrenia and epilepsy would have a higher frequency of disease-associated CNVs and would represent an enriched sample for detection of other mutations associated with schizophrenia. ## Methods We used array comparative genomic hybridization (CGH) to analyze 235 individuals with both schizophrenia and epilepsy, 80 with bipolar disorder and epilepsy, and 191 controls. ## Results We detected 10 schizophrenia plus epilepsy cases in 235 (4.3%) with the above mentioned CNVs compared to 0 in 191 controls (p = 0.003). Other likely pathological findings in schizophrenia plus epilepsy cases included 1 deletion 16p13 and 1 duplication 7q11.23 for a total of 12/235 (5.1%) while a possibly pathogenic duplication of 22q11.2 was found in one control for a total of 1 in 191 (0.5

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Author

Larissa R Stewart; April L Hall; Sung-Hae L Kang; Chad A Shaw; Arthur L Beaudet

Publisher

BioMed Central; Springer (Biomed Central Ltd.); London: BioMed Central, 2000-; Springer Science and Business Media LLC (ISSN 1471-2350)

Published

2011

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)