ANA GABRIELA HOUNIE

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LIM/21 - Laboratório de Neuroimagem em Psiquiatria, Hospital das Clínicas, Faculdade de Medicina

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  • article 24 Citação(ões) na Scopus
    Association study between functional polymorphisms in the TNF-alpha gene and obsessive-compulsive disorder
    (2012) CAPPI, Carolina; MUNIZ, Renan Kawano; SAMPAIO, Aline Santos; CORDEIRO, Quirino; BRENTANI, Helena; PALACIOS, Selma A.; MARQUES, Andrea H.; VALLADA, Homero; MIGUEL, Euripedes Constantino; GUILHERME, Luiza; HOUNIE, Ana Gabriela
    Obsessive-compulsive disorder (OCD) is a prevalent psychiatric disorder of unknown etiology. However, there is some evidence that the immune system may play an important role in its pathogenesis. In the present study, two polymorphisms (rs1800795 and rs361525) in the promoter region of the cytokine tumor necrosis factor-alpha (TNFA) gene were genotyped in 183 OCD patients and in 249 healthy controls. The statistical tests were performed using the PLINK (R) software. We found that the A allele of the TNFA rs361525 polymorphism was significantly associated with OCD subjects, according to the allelic x association test (p=0.007). The presence of genetic markers, such as inflammatory cytokines genes linked to OCD, may represent additional evidence supporting the rote of the immune system in its pathogenesis.
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    Does Inflammation Play a Role in Obsessive-Compulsive Disorder?
    (2013) SILVERMAN, Marni; CASSAB, Raony; MUNIZ, Renan; SHAVITT, Roseli G.; TOLEDO, Maria Cecilia; CAPPI, Carolina; THAYER, Julian; MATHIS, Maria Alice de; DINIZ, Juliana B.; HOEXTER, Marcelo Q.; D'ALCANTE, Carina C.; BORCATO, Sonia; HOUNIE, Ana G.; WHITFIELD, Jessie; BELYAVSKAYA, Elena; STERNBERG, Esther; MIGUEL, Euripedes; MARQUES, Andrea H.
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    Whole-exome Sequencing in Obsessive-compulsive Disorder Identifies Rare Mutations and Immunological Pathways
    (2014) CAPPI, Carolina; BRENTANI, Helena; LIMA, Leandro; SANDERS, Stephan J.; DINIZ, Juliana; WALKER, Michael; REIS, Viviane N. S.; HOUNIE, Ana G.; MARIANI, Daniel; OKI, Fabio H.; SHAVITT, Roseli G.; PAULS, David L.; MIGUEL, Euripedes C.; FERNANDEZ, Thomas V.
  • article 8 Citação(ões) na Scopus
    The role of the VNTR functional polymorphism of the promoter region of the MAOA gene on psychiatric disorders
    (2011) NISHIOKA, Silvia A.; PERIN, Eduardo Aliende; SAMPAIO, Aline Santos; CORDEIRO, Quirino; CAPPI, Carolina; MASTROROSA, Rosana Savio; MORAIS, Ivanil A.; REIS, Viviane Neri de Souza; ROSARIO, Maria Conceicao do; HOUNIE, Ana Gabriela
    Introduction: A functional variable number of tandem repeats (VNTR) polymorphism of the promoter region of the monoamine oxidase A (MAOA) gene has been described and many studies have investigated the association of this polymorphism with human behaviors, as well as with several psychiatric disorders. Objective: This study aimed to review the literature on the role of the VNTR functional polymorphism of the promoter region of the MAOA gene on the modulation of human behavior for the development of psychiatric disorders. Method: Searches on the Medline, Embase, Web of Science and PsycInfo databases were performed including works from January 1998 to June 2009. The words used were: ""MAOA and human behavior"" and ""MAOA and psychiatry"". Results: Several studies were found (N = 3,873). After the selection process, 109 papers were included in the review. There was found an association of MAOA low activity alleles with antisocial personality disorder, conduct disorder, ADHD, pathological gambling, and substance abuse. High activity alleles were associated with neuroticism, anorexia nervosa and depression and anxiety disorders. There was no association between the MAOA polymorphisms and bipolar disorder and schizophrenia. Discussion: The main findings, summarized in this paper, support a role of MAOA VNTR polymorphism in some psychiatric disorders although some divergences were found due to methodological difficulties in genetic studies. In general, the studies associated the low activity alleles with impulsivity and aggressive behavior (""hyperactive behaviors""), and the high activity alleles of the gene with ""hypoactive behaviors"", such as depression and anxiety, which demonstrates a modulation of the MAOA enzyme in ""hyperactive"" and ""hypoactive"" disorders.
  • article 20 Citação(ões) na Scopus
    COMT and MAO-A Polymorphisms and Obsessive-Compulsive Disorder: A Family-Based Association Study
    (2015) SAMPAIO, Aline Santos; HOUNIE, Ana Gabriela; PETRIBU, Katia; CAPPI, Carolina; MORAIS, Ivanil; VALLADA, Homero; ROSARIO, Maria Conceicao do; STEWART, S. Evelyn; FARGENESS, Jesen; MATHEWS, Carol; ARNOLD, Paul; HANNA, Gregory L.; RICHTER, Margaret; KENNEDY, James; FONTENELLE, Leonardo; PEREIRA, Carlos Alberto de Braganca; PAULS, David L.; MIGUEL, Euripedes Constantino
    Objective Obsessive-compulsive disorder (OCD) is a common and debilitating psychiatric illness. Although a genetic component contributes to its etiology, no single gene or mechanism has been identified to the OCD susceptibility. The catechol-O-methyltransferase (COMT) and monoamine oxidase A (MAO-A) genes have been investigated in previous OCD studies, but the results are still unclear. More recently, Taylor (2013) in a comprehensive meta-analysis of genetic association studies has identified COMT and MAO-A polymorphisms involved with OCD. In an effort to clarify the role of these two genes in OCD vulnerability, a family-based association investigation was performed as an alternative strategy to the classical case-control design. Methods Transmission disequilibrium analyses were performed after genotyping 13 single-nucleotide polymorphisms (eight in COMT and five in MAO-A) in 783 OCD trios (probands and their parents). Four different OCD phenotypes (from narrow to broad OCD definitions) and a SNP x SNP epistasis were also analyzed. Results OCD, broad and narrow phenotypes, were not associated with any of the investigated COMT and MAO-A polymorphisms. In addition, the analyses of gene-gene interaction did not show significant epistatic influences on phenotype between COMT and MAO-A. Conclusions The findings do not support an association between DSM-IV OCD and the variants of COMT or MAO-A. However, results from this study cannot exclude the contribution of these genes in the manifestation of OCD. The evaluation of broader spectrum phenotypes could help to understand the role of these and other genes in the pathophysiology of OCD and its spectrum disorders.
  • article 16 Citação(ões) na Scopus
    An Inherited Small Microdeletion at 15q13.3 in a Patient with Early- Onset Obsessive-Compulsive Disorder
    (2014) CAPPI, Carolina; HOUNIE, Ana Gabriela; MARIANI, Daniel B.; DINIZ, Juliana Belo; SILVA, Aderbal R. T.; REIS, Viviane N. S.; BUSSO, Ariane F.; SILVA, Amanda Goncalves; FIDALGO, Felipe; ROGATTO, Silvia Regina; MIGUEL, Euripedes C.; KREPISCHI, Ana C.; BRENTANI, Helena
    Copy number variations (CNVs) have been previously associated with several different neurodevelopmen al psychiatric disorders, such as autism, schizophrenia, and attention deficit hyperactivity disorder (ADHD). The present study consisted of pilot genorne-wide screen for CNVs in a cohort of 16 patients with early-onset obsessive-compulsive disorder (OCD) and 2 mentally healthy individuals, using array-based comparative enomic hybridization (aCGH) on 44K arrays. A small rare nal inherited microdeletion (-64 kb) was identified in chromosome 15q13.3 of one male patient with very early onset have OCD. The deletion encompassed part of the FA/IN1 gene, which is involved with the glutamatergic system This finding supports the hypothesis of a complex network of several genes expressed in the brain cant ibuting for h genetic risk of OCD, and also supports the glutamatergic involvement in OCD, which has been previsously reported in the literature.
  • article 111 Citação(ões) na Scopus
    Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD
    (2015) YU, Dongmei; MATHEWS, Carol A.; SCHARF, Jeremiah M.; NEALE, Benjamin M.; DAVIS, Lea K.; GAMAZON, Eric R.; DERKS, Eske M.; EVANS, Patrick; EDLUND, Christopher K.; CRANE, Jacquelyn; OSIECKI, Lisa; RENNER, Tobias; REUS, Victor I.; RICHTER, Margaret A.; RIDDLE, Mark A.; ROBERTSON, Mary M.; ROMERO, Roxana; ROSARIO, Maria C.; ROSENBERG, David; RUHRMANN, Stephan; SABATTI, Chiara; GALLAGHER, Patience; SALVI, Erika; SAMPAIO, Aline S.; SAMUELS, Jack; SANDOR, Paul; SERVICE, Susan K.; SHEPPARD, Brooke; SINGER, Harvey S.; SMIT, Jan H.; STEIN, Dan J.; STRENGMAN, Eric; GERBER, Gloria; TISCHFIELD, Jay A.; TURIEL, Maurizio; DUARTE, Ana V. Valencia; VALLADA, Homero; VEENSTRA-VANDERWEELE, Jeremy; WALITZA, Susanne; WANG, Ying; WEALE, Mike; WEISS, Robert; WENDLAND, Jens R.; HADDAD, Stephen; WESTENBERG, Herman G. M.; SHUGART, Yin Yao; HOUNIE, Ana G.; MIGUEL, Euripedes C.; NICOLINI, Humberto; WAGNER, Michael; RUIZ-LINARES, Andres; CATH, Danielle C.; MCMAHON, William; POSTHUMA, Danielle; ILLMANN, Cornelia; OOSTRA, Ben A.; NESTADT, Gerald; ROUTEAU, Guy A.; PURCELL, Shaun; JENIKE, Michael A.; HEUTINK, Peter; HANNA, Gregory L.; CONTI, David V.; ARNOLD, Paul D.; FREIMER, Nelson B.; MCGRATH, Lauren M.; STEWART, Evelyn; KNOWLES, James A.; COX, Nancy J.; PAULS, David L.; MAYERFELD, Catherine; AREPALLI, Sampath; BARLASSINA, Cristina; BARR, Cathy L.; BELLODI, Laura; BENARROCH, Fortu; BERRIO, Gabriel Bedoya; BIENVENU, O. Joseph; BLACK, Donald W.; BLOCH, Michael H.; BRENTANI, Helena; BRUUN, Ruth D.; BUDMAN, Cathy L.; CAMARENA, Beatriz; CAMPBELL, Desmond D.; CAPPI, Carolina; SILGADO, Julio C. Cardona; CAVALLINI, Maria C.; CHAVIRA, Denise A.; CHOUINARD, Sylvain; COOK, Edwin H.; COOKSON, M. R.; CORIC, Vladimir; CULLEN, Bernadette; CUSI, Daniete; DELORME, Richard; DENYS, Damiaan; DION, Yves; EAPEN, Valsama; EGBERTS, Karin; FALKAI, Peter; FERNANDEZ, Thomas; FOURNIER, Eduardo; GARRIDO, Helena; GELLER, Daniel; GILBERT, Donald L.; GIRARD, Simon L.; GRABE, Hans J.; GRADOS, Marco A.; GREENBERG, Benjamin D.; GROSS-TSUR, Varda; GRUENBLATT, Edna; HARDY, John; HEIMAN, Gary A.; HEMMINGS, Sian M. J.; HERRERA, Luis D.; HEZEL, Dianne M.; HOEKSTRA, Pieter J.; JANKOVIC, Joseph; KENNEDY, James L.; KING, Robert A.; KONKASHBAEV, Anuar I.; KREMEYER, Barbara; KURLAN, Roger; LANZAGORTA, Nuria; LEBOYER, Marion; LECKMAN, James F.; LENNERTZ, Leonhard; LIU, Chunyu; LOCHNER, Christine; LOWE, Thomas L.; LUPOLI, Sara; MACCIARDI, Fabio; MAIER, Wolfgang; MANUNTA, Paolo; MARCONI, Maurizio; MCCRACKEN, James T.; RESTREPO, Sandra C. Mesa; MOESSNER, Rainald; MOORJANI, Priya; MORGAN, Jubel; MULLER, Heike; MURPHY, Dennis L.; NAARDEN, Allan L.; NURMI, Erika; OCHOA, William Cornejo; OPHOFF, Roel A.; PAKSTIS, Andrew J.; PATO, Michele T.; PATO, Carlo N.; PIACENTINI, John; PITTENGER, Christopher; POLLAK, Yehuda; RAUCH, Scott L.
    Objective: Obsessive-compulsive disorder (OCD) and Tourette's syndrome are highly heritable neurodevelopmental disorders that are thought to share genetic risk factors. However, the identification of definitive susceptibility genes for these etiologically complex disorders remains elusive. The authors report a combined genome-wide association study (GWAS) of Tourette's syndrome and OCD. Method: The authors conducted a GWAS in 2,723 cases (1,310 with OCD, 834 with Tourette's syndrome, 579 with OCD plus Tourette's syndrome/chronic tics), 5,667 ancestry-matched controls, and 290 OCD parent-child trios. GWAS summary statistics were examined for enrichment of functional variants associated with gene expression levels in brain regions. Polygenic score analyses were conducted to investigate the genetic architecture within and across the two disorders. Results: Although no individual single-nucleotide polymorphisms (SNPs) achieved genome-wide significance, the GWAS signals were enriched for SNPs strongly associated with variations in brain gene expression levels (expression quantitative loci, or eQTLs), suggesting the presence of true functional variants that contribute to risk of these disorders Polygenic score analyses identified a significant polygenic component for OCD (p=2x10(-4)), predicting 3.2% of the phenotypic variance in an independent data set. In contrast, Tourette's syndrome had a smaller, nonsignificant polygenic component, predicting only 0.6% of the phenotypic variance (p=0.06). No significant polygenic signal was detected across the two disorders, although the sample is likely underpowered to detect a modest shared signal. Furthermore, the OCD polygenic signal was significantly attenuated when cases with both OCD and co-occurring Tourette's syndrome/chronic tics were included in the analysis (p=0.01). Conclusions: Previous work has shown that Tourette's syndrome and OCD have some degree of shared genetic variation. However, the data from this study suggest that there are also distinct components to the genetic architectures of these two disorders. Furthermore, OCD with co-occurring burette's syndrome/chronic tics may have different underlying genetic susceptibility compared with OCD alone.
  • article 38 Citação(ões) na Scopus
    Sex differences in the genetic architecture of obsessive-compulsive disorder
    (2019) KHRAMTSOVA, Ekaterina A.; HELDMAN, Raphael; DERKS, Eske M.; YU, Dongmei; DAVIS, Lea K.; STRANGER, Barbara E.; ARNOLD, Paul D.; ASKLAND, Kathleen D.; BARLASSINA, Cristina; BELLODI, Laura; BIENVENU, O. J.; BLACK, Donald; BLOCH, Michael; BRENTANI, Helena; BURTON, Christie L.; CAMARENA, Beatriz; CAPPI, Carolina; CATH, Danielle; CAVALLINI, Maria; CONTI, David; COOK, Edwin; CORIC, Vladimir; CULLEN, Bernadette A.; CUSI, Danielle; DAVIS, Lea K.; DELORME, Richard; DENYS, Damiaan; DERKS, Eske; EAPEN, Valsamma; EDLUND, Christopher; ERDMAN, Lauren; FALKAI, Peter; FIGEE, Martijn; FYER, Abigail J.; GELLER, Daniel A.; GOES, Fernando S.; GRABE, Hans; GRADOS, Marcos A.; GREENBERG, Benjamin D.; GRUNBLATT, Edna; GUO, Wei; HANNA, Gregory L.; HEMMINGS, Sian; HOUNIE, Ana G.; JENICKE, Michael; KEENAN, Clare; KENNEDY, James; KHRAMTSOVA, Ekaterina A.; KONKASHBAEV, Anuar; KNOWLES, James A.; KRASNOW, Janice; LANGE, Cristophe; LANZAGORTA, Nuria; LEBOYER, Marion; LENNERTZ, Leonhard; LI, Bingbin; LIANG, K-Y; LOCHNER, Christine; MACCIARDI, Fabio; MAHER, Brion; MAIER, Wolfgang; MARCONI, Maurizio; MATHEWS, Carol A.; MATTHESIEN, Manuel; MCCRACKEN, James T.; MCLAUGHLIN, Nicole C.; MIGUEL, Euripedes C.; MOESSNER, Rainald; MURPHY, Dennis L.; NEALE, Benjamin; NESTADT, Gerald; NESTADT, Paul; NICOLINI, Humberto; NURMI, Ericka; OSIECKI, Lisa; PATO, Carlos; PATO, Michelle; PAULS, David L.; PIACENTINI, John; POSTHUMA, Danielle; PULVER, Ann E.; QIN, H-D; RASMUSSEN, Steven A.; RAUCH, Scott; RICHTER, Margaret A.; RIDDLE, Mark A.; RIPKE, Stephan; RUHRMANN, Stephan; SAMPAIO, Aline S.; SAMUELS, Jack F.; SCHARF, Jeremiah M.; SHUGART, Yin Yao; SMIT, Jan; STEIN, Daniel; STEWART, S. Evelyn; TURIEL, Maurizio; VALLADA, Homero; VEENSTRA-VANDERWEELE, Jeremy; WAGNER, Michael; WALITZA, Susanne; WANG, Y.; WENDLAND, Jens; VULINK, Nienke; YU, Dongmei; ZAI, Gwyneth
    Obsessive-compulsive disorder (OCD) is a highly heritable complex phenotype that demonstrates sex differences in age of onset and clinical presentation, suggesting a possible sex difference in underlying genetic architecture. We present the first genome-wide characterization of the sex-specific genetic architecture of OCD, utilizing the largest set of OCD cases and controls available from the Psychiatric Genomics Consortium. We assessed evidence for several mechanisms that may contribute to sex differences including a sex-dependent liability threshold, the presence of individual sex-specific risk variants on the autosomes and the X chromosome, and sex-specific pleiotropic effects. Furthermore, we tested the hypothesis that genetic heterogeneity between the sexes may obscure associations in a sex-combined genome-wide association study. We observed a strong genetic correlation between male and female OCD and no evidence for a sex-dependent liability threshold model, suggesting that sex-combined analysis does not suffer from widespread loss of power because of genetic heterogeneity between the sexes. While we did not detect any significant sex-specific genome-wide single nucleotide polymorphisms (SNP) associations, we did identify two significant gene-based associations in females: GRID2 and GRP135, which showed no association in males. We observed that the SNPs with sexually differentiated effects showed an enrichment of regulatory variants influencing expression of genes in brain and immune tissues. These findings suggest that future studies with larger sample sizes hold great promise for the identification of sex-specific genetic risk factors for OCD.
  • article 1 Citação(ões) na Scopus
    Brain derived neurotrophic factor mediated learning, fear acquisition and extinction as targets for developing novel treatments for anxiety
    (2016) OLIVEIRA, Karina Soares de; HOUNIE, Ana Gabriela; CAPPI, Carolina; DINIZ, Juliana Belo
    ABSTRACT Anxiety and obsessive-compulsive related disorders are highly prevalent and disabling disorders for which there are still treatment gaps to be explored. Fear is a core symptom of these disorders and its learning is highly dependent on the activity of the neurotrophin brain-derived neurotrophic factor (BDNF). Should BDNF-mediated fear learning be considered a target for the development of novel treatments for anxiety and obsessive-compulsive related disorders? We review the evidence that suggests that BDNF expression is necessary for the acquisition of conditioned fear, as well as for the recall of its extinction. We describe the findings related to fear learning and genetic/epigenetic manipulation of Bdnf expression in animals and BDNF allelic variants in humans. Later, we discuss how manipulation of BDNF levels represents a promising potential treatment target that may increase the benefits of therapies that extinguish previously conditioned fear.
  • article 94 Citação(ões) na Scopus
    Copy Number Variation in Obsessive-Compulsive Disorder and Tourette Syndrome: A Cross-Disorder Study
    (2014) MCGRATH, Lauren M.; YU, Dongmei; MARSHALL, Christian; DAVIS, Lea K.; THIRUVAHINDRAPURAM, Bhooma; LI, Bingbin; CAPPI, Carolina; GERBER, Gloria; WOLF, Aaron; SCHROEDER, Frederick A.; OSIECKI, Lisa; O'DUSHLAINE, Colm; KIRBY, Andrew; ILLMANN, Cornelia; HADDAD, Stephen; GALLAGHER, Patience; FAGERNESS, Jesen A.; BARR, Cathy L.; BELLODI, Laura; BENARROCH, Fortu; BIENVENU, O. Joseph; BLACK, Donald W.; BLOCH, Michael H.; BRUUN, Ruth D.; BUDMAN, Cathy L.; CAMARENA, Beatriz; CATH, Danielle C.; CAVALLINI, Maria C.; CHOUINARD, Sylvain; CORIC, Vladimir; CULLEN, Bernadette; DELORME, Richard; DENYS, Damiaan; DERKS, Eske M.; DION, Yves; ROSARIO, Maria C.; EAPEN, Valsama; EVANS, Patrick; FALKAI, Peter; FERNANDEZ, Thomas V.; GARRIDO, Helena; GELLER, Daniel; GRABE, Hans J.; GRADOS, Marco A.; GREENBERG, Benjamin D.; GROSS-TSUR, Varda; GRUENBLATT, Edna; HEIMAN, Gary A.; HEMMINGS, Sian M. J.; HERRERA, Luis D.; HOUNIE, Ana G.; JANKOVIC, Joseph; KENNEDY, James L.; KING, Robert A.; KURLAN, Roger; LANZAGORTA, Nuria; LEBOYER, Marion; LECKMAN, James F.; LENNERTZ, Leonhard; LOCHNER, Christine; LOWE, Thomas L.; LYON, Gholson J.; MACCIARDI, Fabio; MAIER, Wolfgang; MCCRACKEN, James T.; MCMAHON, William; MURPHY, Dennis L.; NAARDEN, Allan L.; NEALE, Benjamin M.; NURMI, Erika; PAKSTIS, Andrew J.; PATO, Michele T.; PATO, Carlos N.; PIACENTINI, John; PITTENGER, Christopher; POLLAK, Yehuda; REUS, Victor I.; RICHTER, Margaret A.; RIDDLE, Mark; ROBERTSON, Mary M.; ROSENBERG, David; ROULEAU, Guy A.; RUHRMANN, Stephan; SAMPAIO, Aline S.; SAMUELS, Jack; SANDOR, Paul; SHEPPARD, Brooke; SINGER, Harvey S.; SMIT, Jan H.; STEIN, Dan J.; TISCHRIELD, Jay A.; VALLADA, Homero; VEENSTRA-VANDERWEELE, Jeremy; WALITZA, Susanne; WANG, Ying; WENDFAND, Jens R.; SHUGART, Yin Yao; MIGUEL, Euripedes C.; NICOLINI, Humberto; OOSTRA, Ben A.; MOESSNER, Rainald; WAGNER, Michael; RUIZ-LINARES, Andres; HEUTINK, Peter; NESTADT, Gerald; FREIMER, Nelson; PETRYSHEN, Tracey; POSTHUMA, Danielle; JENIKE, Michael A.; COX, Nancy J.; HANNA, Gregory L.; BRENTANI, Helena; SCHERER, Stephen W.; ARNOLD, Paul D.; STEWART, S. Evelyn; MATHEWS, Carol A.; KNOWLES, James A.; COOK, Edwin H.; PAULS, David L.; WANG, Kai; SCHARF, Jeremiah M.
    Objective: Obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) are heritable neurodevelopmental disorders with a partially shared genetic etiology. This study represents the first genome-wide investigation of large (>500 kb), rare (<1%) copy number variants (CNVs) in OCD and the largest genome-wide CNV analysis in TS to date. Method: The primary analyses used a cross-disorder design for 2,699 case patients (1,613 ascertained for OCD, 1,086 ascertained for TS) and 1,789 controls. Parental data facilitated a de novo analysis in 348 OCD trios. Results: Although no global CNV burden was detected in the cross-disorder analysis or in secondary, disease-specific analyses, there was a 3.3-fold increased burden of large deletions previously associated with other neurodevelopmental disorders (p = .09). Half of these neurodevelopmental deletions were located in a single locus, 16p13.11 (5 case patient deletions: 0 control deletions, p = .08 in the current study, p = .025 compared to published controls). Three 16p13.11 deletions were confirmed de novo, providing further support for the etiological significance of this region. The overall OCD de novo rate was 1.4%, which is intermediate between published rates in controls (0.7%) and in individuals with autism or schizophrenia (2-4%). Conclusion: Several converging lines of evidence implicate 16p13.11 deletions in OCD, with weaker evidence for a role in TS. The trend toward increased overall neurodevelopmental CNV burden in TS and OCD suggests that deletions previously associated with other neurodevelopmental disorders may also contribute to these phenotypes.