| TCF4, schizophrenia, and Pitt-Hopkins Syndrome. | |
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MedLine Citation:
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PMID: 20421335 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Genome-wide association studies allied with the identification of rare copy number variants have provided important insights into the genetic risk factors for schizophrenia. Recently, a meta-analysis of several genome-wide association studies found, in addition to several other markers, a single nucleotide polymorphism in intron 4 of the TCF4 gene that was associated with schizophrenia. TCF4 encodes a basic helix-loop-helix transcription factor that interacts with other transcription factors to activate or repress gene expression. TCF4 mutations also cause Pitt-Hopkins Syndrome, an autosomal-dominant neurodevelopmental disorder associated with severe mental retardation. Variants in the TCF4 gene may therefore be associated with a range of neuropsychiatric phenotypes, including schizophrenia. Recessive forms of Pitt-Hopkins syndrome are caused by mutations in NRXN1 and CNTNAP2. Interestingly, NRXN1 deletions have been reported in schizophrenia, whereas CNTNAP2 variants are associated with several neuropsychiatric phenotypes. These data suggest that TCF4, NRXN1, and CNTNAP2 may participate in a biological pathway that is altered in patients with schizophrenia and other neuropsychiatric disorders. |
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Authors:
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Derek J Blake; Marc Forrest; Ria M Chapman; Caroline L Tinsley; Michael C O'Donovan; Michael J Owen |
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Publication Detail:
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Type: Editorial; Research Support, Non-U.S. Gov't Date: 2010-04-26 |
Journal Detail:
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Title: Schizophrenia bulletin Volume: 36 ISSN: 1745-1701 ISO Abbreviation: Schizophr Bull Publication Date: 2010 May |
Date Detail:
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Created Date: 2010-06-02 Completed Date: 2010-09-16 Revised Date: 2011-07-28 |
Medline Journal Info:
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Nlm Unique ID: 0236760 Medline TA: Schizophr Bull Country: United States |
Other Details:
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Languages: eng Pagination: 443-7 Citation Subset: IM |
Affiliation:
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Department of Psychological Medicine and Neurology, Medical Research Council Center for Neuropsychiatric Genetics and Genomics, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff CF14 4XN, UK. blakedj@cardiff.ac.uk |
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
/
diagnosis,
genetics*,
physiopathology Alleles Animals Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / genetics* Brain / physiopathology Chromosome Aberrations Chromosome Deletion DNA Mutational Analysis Developmental Disabilities / diagnosis, genetics*, physiopathology Genes, Dominant / genetics Genes, Recessive / genetics Genetic Markers / genetics Genetic Predisposition to Disease / genetics* Genome-Wide Association Study Heterozygote Detection Humans Language Development Disorders / diagnosis, genetics*, physiopathology Mental Retardation / diagnosis, genetics*, physiopathology Phenotype Schizophrenia / genetics*, physiopathology Syndrome Transcription Factors / genetics* |
| Grant Support | |
ID/Acronym/Agency:
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WT088866//Wellcome Trust; //Medical Research Council |
| Chemical | |
Reg. No./Substance:
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0/Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; 0/Genetic Markers; 0/TCF4 protein, human; 0/Transcription Factors |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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