A Novel Microduplication in the Neurodevelopmental Gene SRGAP3 That Segregates with Psychotic Illness in the Family of a COS Proband
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 s...
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Hindawi Limited
2011-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2011/585893 |
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doaj-5b5fd62e95114583b6c061a4d41009292020-11-24T21:25:06ZengHindawi LimitedCase Reports in Genetics2090-65442090-65522011-01-01201110.1155/2011/585893585893A Novel Microduplication in the Neurodevelopmental Gene SRGAP3 That Segregates with Psychotic Illness in the Family of a COS ProbandNicole K. A. Wilson0Yohan Lee1Robert Long2Karen Hermetz3M. Katharine Rudd4Rachel Miller5Judith L. Rapoport6Anjené M. Addington7Child Psychiatry Branch, National Institute of Mental Health, 10 Center Drive, Building 10/Room 3N202, Bethesda, MD 20892, USAChild Psychiatry Branch, National Institute of Mental Health, 10 Center Drive, Building 10/Room 3N202, Bethesda, MD 20892, USAChild Psychiatry Branch, National Institute of Mental Health, 10 Center Drive, Building 10/Room 3N202, Bethesda, MD 20892, USADepartment of Human Genetics, Emory University School of Medicine, 615 Michael Street, Room 315, Atlanta, GA 30322, USADepartment of Human Genetics, Emory University School of Medicine, 615 Michael Street, Room 315, Atlanta, GA 30322, USAChild Psychiatry Branch, National Institute of Mental Health, 10 Center Drive, Building 10/Room 3N202, Bethesda, MD 20892, USAChild Psychiatry Branch, National Institute of Mental Health, 10 Center Drive, Building 10/Room 3N202, Bethesda, MD 20892, USAChild Psychiatry Branch, National Institute of Mental Health, 10 Center Drive, Building 10/Room 3N202, Bethesda, MD 20892, USASchizophrenia 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.http://dx.doi.org/10.1155/2011/585893 |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Nicole K. A. Wilson Yohan Lee Robert Long Karen Hermetz M. Katharine Rudd Rachel Miller Judith L. Rapoport Anjené M. Addington |
| spellingShingle |
Nicole K. A. Wilson Yohan Lee Robert Long Karen Hermetz M. Katharine Rudd Rachel Miller Judith L. Rapoport Anjené M. Addington A Novel Microduplication in the Neurodevelopmental Gene SRGAP3 That Segregates with Psychotic Illness in the Family of a COS Proband Case Reports in Genetics |
| author_facet |
Nicole K. A. Wilson Yohan Lee Robert Long Karen Hermetz M. Katharine Rudd Rachel Miller Judith L. Rapoport Anjené M. Addington |
| author_sort |
Nicole K. A. Wilson |
| title |
A Novel Microduplication in the Neurodevelopmental Gene SRGAP3 That Segregates with Psychotic Illness in the Family of a COS Proband |
| title_short |
A Novel Microduplication in the Neurodevelopmental Gene SRGAP3 That Segregates with Psychotic Illness in the Family of a COS Proband |
| title_full |
A Novel Microduplication in the Neurodevelopmental Gene SRGAP3 That Segregates with Psychotic Illness in the Family of a COS Proband |
| title_fullStr |
A Novel Microduplication in the Neurodevelopmental Gene SRGAP3 That Segregates with Psychotic Illness in the Family of a COS Proband |
| title_full_unstemmed |
A Novel Microduplication in the Neurodevelopmental Gene SRGAP3 That Segregates with Psychotic Illness in the Family of a COS Proband |
| title_sort |
novel microduplication in the neurodevelopmental gene srgap3 that segregates with psychotic illness in the family of a cos proband |
| publisher |
Hindawi Limited |
| series |
Case Reports in Genetics |
| issn |
2090-6544 2090-6552 |
| publishDate |
2011-01-01 |
| description |
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. |
| url |
http://dx.doi.org/10.1155/2011/585893 |
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