Document Detail

Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems.
MedLine Citation:
PMID:  21792059     Owner:  NLM     Status:  Publisher    
PURPOSE:: Recently, molecular cytogenetic techniques have identified novel copy number variants in individuals with schizophrenia. However, no large-scale prospective studies have been performed to characterize the broader spectrum of phenotypes associated with such copy number variants in individuals with unexplained physical and intellectual disabilities encountered in a diagnostic setting. METHODS:: We analyzed 38,779 individuals referred to our diagnostic laboratory for microarray testing for the presence of copy number variants encompassing 20 putative schizophrenia susceptibility loci. We also analyzed the indications for study for individuals with copy number variants overlapping those found in six individuals referred for schizophrenia. RESULTS:: After excluding larger gains or losses that encompassed additional genes outside the candidate loci (e.g., whole-arm gains/losses), we identified 1113 individuals with copy number variants encompassing schizophrenia susceptibility loci and 37 individuals with copy number variants overlapping those present in the six individuals referred to our laboratory for schizophrenia. Of these, 1035 had a copy number variant of one of six recurrent loci: 1q21.1, 15q11.2, 15q13.3, 16p11.2, 16p13.11, and 22q11.2. The indications for study for these 1150 individuals were diverse and included developmental delay, intellectual disability, autism spectrum, and multiple congenital anomalies. CONCLUSION:: The results from our study, the largest genotype-first analysis of schizophrenia susceptibility loci to date, suggest that the phenotypic effects of copy number variants associated with schizophrenia are pleiotropic and imply the existence of shared biologic pathways among multiple neurodevelopmental conditions.
Trilochan Sahoo; Aaron Theisen; Jill A Rosenfeld; Allen N Lamb; J Britt Ravnan; Roger A Schultz; Beth S Torchia; Nicholas Neill; Ian Casci; Bassem A Bejjani; Lisa G Shaffer
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-7-25
Journal Detail:
Title:  Genetics in medicine : official journal of the American College of Medical Genetics     Volume:  -     ISSN:  1530-0366     ISO Abbreviation:  -     Publication Date:  2011 Jul 
Date Detail:
Created Date:  2011-7-27     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9815831     Medline TA:  Genet Med     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
From Signature Genomic Laboratories, Spokane, Washington.
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