Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder.
paper
Cited
Public
- Authors
- 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
- Year
- 2010
- Journal
- BMC medical genetics
- PMID
- 20565924
- DOI
- 10.1186/1471-2350-11-100
- PMCID
- PMC2909937
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.
22q11.21 and 15q11-q13 regions. A. Schematic representation of chromosome 22q11.21 showing the genes in the region, the common recurrent deletions (red bars), and the segmental duplications that mediate the rearrangements (blue rectangles), termed low copy repeat (LCR) A to D. B. Schematic representation of the 15q11-q13 region deleted in Prader-Willi and Angelman syndromes. Paternally expressed genes are shown in yellow, maternally expressed genes in orange. Recurrent deletions are represented as red bars; the segmental duplications that mediate the rearrangements, termed breakpoint (BP) 1 to 3, are portrayed as blue rectangles.
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In this knowledge base
| Title | Year | PMID |
|---|---|---|
| Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study. | 2014 | 25062598 |
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