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A Novel Microduplication in the Neurodevelopmental Gene SRGAP3 That Segregates with Psychotic Illness in the Family of a COS Proband
Joint Authors
Miller, Rachel
Long, Robert
Rudd, M. Katharine
Addington, Anjené M.
Lee, Yohan
Wilson, Nicole K. A.
Hermetz, Karen
Rapoport, Judith L.
Source
Issue
Vol. 2011, Issue 2011 (31 Dec. 2011), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2011-09-12
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Schizophrenia is a debilitating mental disorder affecting approximately 1% of the world's population.
Childhood onset schizophrenia (COS), defined as onset before age 13, is a rare and severe form of the illness that may have more salient genetic influence.
We identified a ~134 kb duplication spanning exons 2–4 of the Slit-Robo GTPase-activating protein 3 (SRGAP3) gene on chromosome 3p25.3 that tracks with psychotic illness in the family of a COS proband.
Cloning and sequencing of the duplication junction confirmed that the duplication is tandem, and analysis of the resulting mRNA transcript suggests that the duplication would result in a frame shift mutation.
This is the first family report of a SRGAP3 copy number variant (CNV) in schizophrenia.
Considering that SRGAP3 is important in neural development, we conclude that this SRGAP3 duplication may be an important factor contributing to the psychotic phenotype in this family.
American Psychological Association (APA)
Wilson, Nicole K. A.& Lee, Yohan& Long, Robert& Hermetz, Karen& Rudd, M. Katharine& Miller, Rachel…[et al.]. 2011. A Novel Microduplication in the Neurodevelopmental Gene SRGAP3 That Segregates with Psychotic Illness in the Family of a COS Proband. Case Reports in Genetics،Vol. 2011, no. 2011, pp.1-5.
https://search.emarefa.net/detail/BIM-482888
Modern Language Association (MLA)
Wilson, Nicole K. A.…[et al.]. A Novel Microduplication in the Neurodevelopmental Gene SRGAP3 That Segregates with Psychotic Illness in the Family of a COS Proband. Case Reports in Genetics No. 2011 (2011), pp.1-5.
https://search.emarefa.net/detail/BIM-482888
American Medical Association (AMA)
Wilson, Nicole K. A.& Lee, Yohan& Long, Robert& Hermetz, Karen& Rudd, M. Katharine& Miller, Rachel…[et al.]. A Novel Microduplication in the Neurodevelopmental Gene SRGAP3 That Segregates with Psychotic Illness in the Family of a COS Proband. Case Reports in Genetics. 2011. Vol. 2011, no. 2011, pp.1-5.
https://search.emarefa.net/detail/BIM-482888
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-482888