Document Detail

TCF4, schizophrenia, and Pitt-Hopkins Syndrome.
MedLine Citation:
PMID:  20421335     Owner:  NLM     Status:  MEDLINE    
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.
Derek J Blake; Marc Forrest; Ria M Chapman; Caroline L Tinsley; Michael C O'Donovan; Michael J Owen
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Publication Detail:
Type:  Editorial; Research Support, Non-U.S. Gov't     Date:  2010-04-26
Journal Detail:
Title:  Schizophrenia bulletin     Volume:  36     ISSN:  1745-1701     ISO Abbreviation:  Schizophr Bull     Publication Date:  2010 May 
Date Detail:
Created Date:  2010-06-02     Completed Date:  2010-09-16     Revised Date:  2014-02-19    
Medline Journal Info:
Nlm Unique ID:  0236760     Medline TA:  Schizophr Bull     Country:  United States    
Other Details:
Languages:  eng     Pagination:  443-7     Citation Subset:  IM    
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MeSH Terms
Abnormalities, Multiple / diagnosis,  genetics*,  physiopathology
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
Intellectual Disability / diagnosis,  genetics*,  physiopathology
Language Development Disorders / diagnosis,  genetics*,  physiopathology
Schizophrenia / genetics*,  physiopathology
Transcription Factors / genetics*
Grant Support
G0800509//Medical Research Council; WT088866//Wellcome Trust; //Medical Research Council
Reg. No./Substance:
0/Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; 0/Genetic Markers; 0/TCF4 protein, human; 0/Transcription Factors

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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