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Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder

BACKGROUND: Obsessive-compulsive disorder (OCD) is a clinically and etiologically heterogeneous syndrome. The high frequency of obsessive-compulsive symptoms reported in subjects with the 22q11.2 deletion syndrome (DiGeorge/velocardiofacial syndrome) or Prader-Willi syndrome (15q11-13 deletion of th...

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Autores principales: Delorme, Richard, Moreno-De-Luca, Daniel, Gennetier, Aurélie, Maier, Wolfgang, Chaste, Pauline, Mössner, Rainald, Grabe, Hans Jörgen, Ruhrmann, Stephan, Falkai, Peter, Mouren, Marie-Christine, Leboyer, Marion, Wagner, Michael, Betancur, Catalina
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2909937/
https://www.ncbi.nlm.nih.gov/pubmed/20565924
http://dx.doi.org/10.1186/1471-2350-11-100
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author Delorme, Richard
Moreno-De-Luca, Daniel
Gennetier, Aurélie
Maier, Wolfgang
Chaste, Pauline
Mössner, Rainald
Grabe, Hans Jörgen
Ruhrmann, Stephan
Falkai, Peter
Mouren, Marie-Christine
Leboyer, Marion
Wagner, Michael
Betancur, Catalina
author_facet Delorme, Richard
Moreno-De-Luca, Daniel
Gennetier, Aurélie
Maier, Wolfgang
Chaste, Pauline
Mössner, Rainald
Grabe, Hans Jörgen
Ruhrmann, Stephan
Falkai, Peter
Mouren, Marie-Christine
Leboyer, Marion
Wagner, Michael
Betancur, Catalina
author_sort Delorme, Richard
collection PubMed
description BACKGROUND: Obsessive-compulsive disorder (OCD) is a clinically and etiologically heterogeneous syndrome. The high frequency of obsessive-compulsive symptoms reported in subjects with the 22q11.2 deletion syndrome (DiGeorge/velocardiofacial syndrome) or Prader-Willi syndrome (15q11-13 deletion of the paternally derived chromosome), suggests that gene dosage effects in these chromosomal regions could increase risk for OCD. Therefore, the aim of this study was to search for microrearrangements in these two regions in OCD patients. METHODS: We screened the 15q11-13 and 22q11.2 chromosomal regions for genomic imbalances in 236 patients with OCD using multiplex ligation-dependent probe amplification (MLPA). RESULTS: No deletions or duplications involving 15q11-13 or 22q11.2 were identified in our patients. CONCLUSIONS: Our results suggest that deletions/duplications of chromosomes 15q11-13 and 22q11.2 are rare in OCD. Despite the negative findings in these two regions, the search for copy number variants in OCD using genome-wide array-based methods is a highly promising approach to identify genes of etiologic importance in the development of OCD.
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spelling pubmed-29099372010-07-27 Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder Delorme, Richard Moreno-De-Luca, Daniel Gennetier, Aurélie Maier, Wolfgang Chaste, Pauline Mössner, Rainald Grabe, Hans Jörgen Ruhrmann, Stephan Falkai, Peter Mouren, Marie-Christine Leboyer, Marion Wagner, Michael Betancur, Catalina BMC Med Genet Research Article BACKGROUND: Obsessive-compulsive disorder (OCD) is a clinically and etiologically heterogeneous syndrome. The high frequency of obsessive-compulsive symptoms reported in subjects with the 22q11.2 deletion syndrome (DiGeorge/velocardiofacial syndrome) or Prader-Willi syndrome (15q11-13 deletion of the paternally derived chromosome), suggests that gene dosage effects in these chromosomal regions could increase risk for OCD. Therefore, the aim of this study was to search for microrearrangements in these two regions in OCD patients. METHODS: We screened the 15q11-13 and 22q11.2 chromosomal regions for genomic imbalances in 236 patients with OCD using multiplex ligation-dependent probe amplification (MLPA). RESULTS: No deletions or duplications involving 15q11-13 or 22q11.2 were identified in our patients. CONCLUSIONS: Our results suggest that deletions/duplications of chromosomes 15q11-13 and 22q11.2 are rare in OCD. Despite the negative findings in these two regions, the search for copy number variants in OCD using genome-wide array-based methods is a highly promising approach to identify genes of etiologic importance in the development of OCD. BioMed Central 2010-06-21 /pmc/articles/PMC2909937/ /pubmed/20565924 http://dx.doi.org/10.1186/1471-2350-11-100 Text en Copyright ©2010 Delorme et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Delorme, Richard
Moreno-De-Luca, Daniel
Gennetier, Aurélie
Maier, Wolfgang
Chaste, Pauline
Mössner, Rainald
Grabe, Hans Jörgen
Ruhrmann, Stephan
Falkai, Peter
Mouren, Marie-Christine
Leboyer, Marion
Wagner, Michael
Betancur, Catalina
Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder
title Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder
title_full Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder
title_fullStr Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder
title_full_unstemmed Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder
title_short Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder
title_sort search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2909937/
https://www.ncbi.nlm.nih.gov/pubmed/20565924
http://dx.doi.org/10.1186/1471-2350-11-100
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