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    Rare missense neuronal cadherin gene (CDH2) variants in specific obsessive-compulsive disorder and Tourette disorder phenotypes

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    Authors
    Moya, Pablo R.
    Dodman, Nicholas H.
    Timpano, Kiara R.
    Rubenstein, Liza M.
    Rana, Zaker
    Fried, Ruby L.
    Reichardt, Louis F.
    Heiman, Gary A.
    Tischfield, Jay A.
    King, Robert A.
    Galdzicka, Marzena
    Ginns, Edward I.
    Wendland, Jens R.
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    UMass Chan Affiliations
    Department of Pathology
    Molecular Diagnostics Laboratory and Clinical Labs
    Intellectual and Developmental Disabilities Research Center
    Document Type
    Journal Article
    Publication Date
    2013-08-01
    Keywords
    Adult
    Antigens, CD
    Blotting, Western
    Cadherins
    DNA Mutational Analysis
    Genotype
    HEK293 Cells
    Humans
    *Mutation, Missense
    Obsessive-Compulsive Disorder
    Phenotype
    Psychiatric Status Rating Scales
    Tourette Syndrome
    Transfection
    Genetics
    Mental Disorders
    Molecular Genetics
    Psychiatric and Mental Health
    Psychiatry and Psychology
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    Link to Full Text
    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722668/
    Abstract
    The recent finding that the neuronal cadherin gene CDH2 confers a highly significant risk for canine compulsive disorder led us to investigate whether missense variants within the human ortholog CDH2 are associated with altered susceptibility to obsessive-compulsive disorder (OCD), Tourette disorder (TD) and related disorders. Exon resequencing of CDH2 in 320 individuals identified four non-synonymous single-nucleotide variants, which were subsequently genotyped in OCD probands, Tourette disorder probands and relatives, and healthy controls (total N=1161). None of the four variants was significantly associated with either OCD or TD. One variant, N706S, was found only in the OCD/TD groups, but not in controls. By examining clinical data, we found there were significant TD-related phenotype differences between those OCD probands with and without the N845S variant with regard to the co-occurrence of TD (Fisher's exact test P=0.014, OR=6.03). Both N706S and N845S variants conferred reduced CDH2 protein expression in transfected cells. Although our data provide no overall support for association of CDH2 rare variants in these disorders considered as single entities, the clinical features and severity of probands carrying the uncommon non-synonymous variants suggest that CDH2, along with other cadherin and cell adhesion genes, is an interesting gene to pursue as a plausible contributor to OCD, TD and related disorders with repetitive behaviors, including autism spectrum disorders.
    Source
    Moya PR, Dodman NH, Timpano KR, Rubenstein LM, Rana Z, Fried RL, Reichardt LF, Heiman GA, Tischfield JA, King RA, Galdzicka M, Ginns EI, Wendland JR. Rare missense neuronal cadherin gene (CDH2) variants in specific obsessive-compulsive disorder and Tourette disorder phenotypes. Eur J Hum Genet. 2013 Aug;21(8):850-4. doi: 10.1038/ejhg.2012.245. Epub 2013 Jan 16. PubMed PMID: 23321619; PubMed Central PMCID: PMC3722668. Link to article on publisher's site
    DOI
    10.1038/ejhg.2012.245
    Permanent Link to this Item
    http://hdl.handle.net/20.500.14038/34839
    PubMed ID
    23321619
    Related Resources
    Link to Article in PubMed
    ae974a485f413a2113503eed53cd6c53
    10.1038/ejhg.2012.245
    Scopus Count
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