Document Detail

Rare missense neuronal cadherin gene (CDH2) variants in specific obsessive-compulsive disorder and Tourette disorder phenotypes.
MedLine Citation:
PMID:  23321619     Owner:  NLM     Status:  MEDLINE    
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.
Pablo R Moya; Nicholas H Dodman; Kiara R Timpano; Liza M Rubenstein; Zaker Rana; Ruby L Fried; Louis F Reichardt; Gary A Heiman; Jay A Tischfield; Robert A King; Marzena Galdzicka; Edward I Ginns; Jens R Wendland
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't     Date:  2013-01-16
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  21     ISSN:  1476-5438     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2013 Aug 
Date Detail:
Created Date:  2013-07-18     Completed Date:  2013-10-29     Revised Date:  2014-08-05    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  850-4     Citation Subset:  IM    
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MeSH Terms
Antigens, CD / genetics*,  metabolism
Blotting, Western
Cadherins / genetics*,  metabolism
DNA Mutational Analysis
HEK293 Cells
Mutation, Missense*
Obsessive-Compulsive Disorder / genetics*,  psychology
Psychiatric Status Rating Scales
Tourette Syndrome / genetics*,  psychology
Grant Support
Reg. No./Substance:
0/Antigens, CD; 0/CDH2 protein, human; 0/Cadherins

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

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