5 results on '"Gazzellone M"'
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2. Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes
- Author
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Lionel, A. C., primary, Tammimies, K., additional, Vaags, A. K., additional, Rosenfeld, J. A., additional, Ahn, J. W., additional, Merico, D., additional, Noor, A., additional, Runke, C. K., additional, Pillalamarri, V. K., additional, Carter, M. T., additional, Gazzellone, M. J., additional, Thiruvahindrapuram, B., additional, Fagerberg, C., additional, Laulund, L. W., additional, Pellecchia, G., additional, Lamoureux, S., additional, Deshpande, C., additional, Clayton-Smith, J., additional, White, A. C., additional, Leather, S., additional, Trounce, J., additional, Melanie Bedford, H., additional, Hatchwell, E., additional, Eis, P. S., additional, Yuen, R. K. C., additional, Walker, S., additional, Uddin, M., additional, Geraghty, M. T., additional, Nikkel, S. M., additional, Tomiak, E. M., additional, Fernandez, B. A., additional, Soreni, N., additional, Crosbie, J., additional, Arnold, P. D., additional, Schachar, R. J., additional, Roberts, W., additional, Paterson, A. D., additional, So, J., additional, Szatmari, P., additional, Chrysler, C., additional, Woodbury-Smith, M., additional, Brian Lowry, R., additional, Zwaigenbaum, L., additional, Mandyam, D., additional, Wei, J., additional, MacDonald, J. R., additional, Howe, J. L., additional, Nalpathamkalam, T., additional, Wang, Z., additional, Tolson, D., additional, Cobb, D. S., additional, Wilks, T. M., additional, Sorensen, M. J., additional, Bader, P. I., additional, An, Y., additional, Wu, B.-L., additional, Musumeci, S. A., additional, Romano, C., additional, Postorivo, D., additional, Nardone, A. M., additional, Monica, M. D., additional, Scarano, G., additional, Zoccante, L., additional, Novara, F., additional, Zuffardi, O., additional, Ciccone, R., additional, Antona, V., additional, Carella, M., additional, Zelante, L., additional, Cavalli, P., additional, Poggiani, C., additional, Cavallari, U., additional, Argiropoulos, B., additional, Chernos, J., additional, Brasch-Andersen, C., additional, Speevak, M., additional, Fichera, M., additional, Ogilvie, C. M., additional, Shen, Y., additional, Hodge, J. C., additional, Talkowski, M. E., additional, Stavropoulos, D. J., additional, Marshall, C. R., additional, and Scherer, S. W., additional
- Published
- 2013
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3. CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders
- Author
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Mercati, O, Huguet, G, Danckaert, A, André-Leroux, G, Maruani, A, Bellinzoni, M, Rolland, T, Gouder, L, Mathieu, A, Buratti, J, Amsellem, F, Benabou, M, Van-Gils, J, Beggiato, A, Konyukh, M, Bourgeois, J-P, Gazzellone, M J, Yuen, R K C, Walker, S, Delépine, M, Boland, A, Régnault, B, Francois, M, Van Den Abbeele, T, Mosca-Boidron, A L, Faivre, L, Shimoda, Y, Watanabe, K, Bonneau, D, Rastam, M, Leboyer, M, Scherer, S W, Gillberg, C, Delorme, R, Cloëz-Tayarani, I, and Bourgeron, T
- Abstract
Contactin genes CNTN5 and CNTN6 code for neuronal cell adhesion molecules that promote neurite outgrowth in sensory-motor neuronal pathways. Mutations of CNTN5 and CNTN6 have previously been reported in individuals with autism spectrum disorders (ASDs), but very little is known on their prevalence and clinical impact. In this study, we identified CNTN5 and CNTN6 deleterious variants in individuals with ASD. Among the carriers, a girl with ASD and attention-deficit/hyperactivity disorder was carrying five copies of CNTN5. For CNTN6, both deletions (6/1534 ASD vs 1/8936 controls; P=0.00006) and private coding sequence variants (18/501 ASD vs 535/33480 controls; P=0.0005) were enriched in individuals with ASD. Among the rare CNTN6 variants, two deletions were transmitted by fathers diagnosed with ASD, one stop mutation CNTN6W923Xwas transmitted by a mother to her two sons with ASD and one variant CNTN6P770Lwas found de novo in a boy with ASD. Clinical investigations of the patients carrying CNTN5 or CNTN6 variants showed that they were hypersensitive to sounds (a condition called hyperacusis) and displayed changes in wave latency within the auditory pathway. These results reinforce the hypothesis of abnormal neuronal connectivity in the pathophysiology of ASD and shed new light on the genes that increase risk for abnormal sensory perception in ASD.
- Published
- 2017
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4. Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.
- Author
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Lowther C, Speevak M, Armour CM, Goh ES, Graham GE, Li C, Zeesman S, Nowaczyk MJ, Schultz LA, Morra A, Nicolson R, Bikangaga P, Samdup D, Zaazou M, Boyd K, Jung JH, Siu V, Rajguru M, Goobie S, Tarnopolsky MA, Prasad C, Dick PT, Hussain AS, Walinga M, Reijenga RG, Gazzellone M, Lionel AC, Marshall CR, Scherer SW, Stavropoulos DJ, McCready E, and Bassett AS
- Subjects
- Calcium-Binding Proteins, Child, DNA Copy Number Variations, Exons genetics, Female, Genotype, Humans, Introns genetics, Male, Microarray Analysis, Neural Cell Adhesion Molecules, Neurodevelopmental Disorders physiopathology, Penetrance, Phenotype, Sequence Deletion, Cell Adhesion Molecules, Neuronal genetics, Genetic Predisposition to Disease, Nerve Tissue Proteins genetics, Neurodevelopmental Disorders epidemiology, Neurodevelopmental Disorders genetics
- Abstract
Purpose: The purpose of the current study was to assess the penetrance of NRXN1 deletions., Methods: We compared the prevalence and genomic extent of NRXN1 deletions identified among 19,263 clinically referred cases to that of 15,264 controls. The burden of additional clinically relevant copy-number variations (CNVs) was used as a proxy to estimate the relative penetrance of NRXN1 deletions., Results: We identified 41 (0.21%) previously unreported exonic NRXN1 deletions ascertained for developmental delay/intellectual disability that were significantly greater than in controls (odds ratio (OR) = 8.14; 95% confidence interval (CI): 2.91-22.72; P < 0.0001). Ten (22.7%) of these had a second clinically relevant CNV. Subjects with a deletion near the 3' end of NRXN1 were significantly more likely to have a second rare CNV than subjects with a 5' NRXN1 deletion (OR = 7.47; 95% CI: 2.36-23.61; P = 0.0006). The prevalence of intronic NRXN1 deletions was not statistically different between cases and controls (P = 0.618). The majority (63.2%) of intronic NRXN1 deletion cases had a second rare CNV at a prevalence twice as high as that for exonic NRXN1 deletion cases (P = 0.0035)., Conclusions: The results support the importance of exons near the 5' end of NRXN1 in the expression of neurodevelopmental disorders. Intronic NRXN1 deletions do not appear to substantially increase the risk for clinical phenotypes.Genet Med 19 1, 53-61.
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- 2017
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5. Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD.
- Author
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Lionel AC, Crosbie J, Barbosa N, Goodale T, Thiruvahindrapuram B, Rickaby J, Gazzellone M, Carson AR, Howe JL, Wang Z, Wei J, Stewart AF, Roberts R, McPherson R, Fiebig A, Franke A, Schreiber S, Zwaigenbaum L, Fernandez BA, Roberts W, Arnold PD, Szatmari P, Marshall CR, Schachar R, and Scherer SW
- Subjects
- Adolescent, Autistic Disorder genetics, Case-Control Studies, Child, Child, Preschool, Female, Genetic Loci genetics, Glycoproteins genetics, Humans, Male, Nervous System Diseases genetics, Pedigree, Risk Factors, Sequence Analysis, DNA, Transcription Factors genetics, Tripartite Motif Proteins, Ubiquitin-Protein Ligases, Attention Deficit Disorder with Hyperactivity genetics, DNA Copy Number Variations genetics, Genetic Predisposition to Disease
- Abstract
Attention deficit hyperactivity disorder (ADHD) is a common and persistent condition characterized by developmentally atypical and impairing inattention, hyperactivity, and impulsiveness. We identified de novo and rare copy number variations (CNVs) in 248 unrelated ADHD patients using million-feature genotyping arrays. We found de novo CNVs in 3 of 173 (1.7%) ADHD patients for whom we had DNA from both parents. These CNVs affected brain-expressed genes: DCLK2, SORCS1, SORCS3, and MACROD2. We also detected rare inherited CNVs in 19 of 248 (7.7%) ADHD probands, which were absent in 2357 controls and which either overlapped previously implicated ADHD loci (for example, DRD5 and 15q13 microduplication) or identified new candidate susceptibility genes (ASTN2, CPLX2, ZBBX, and PTPRN2). Among these de novo and rare inherited CNVs, there were also examples of genes (ASTN2, GABRG1, and CNTN5) previously implicated by rare CNVs in other neurodevelopmental conditions including autism spectrum disorder (ASD). To further explore the overlap of risks in ADHD and ASD, we used the same microarrays to test for rare CNVs in an independent, newly collected cohort of 349 unrelated individuals with a primary diagnosis of ASD. Deletions of the neuronal ASTN2 and the ASTN2-intronic TRIM32 genes yielded the strongest association with ADHD and ASD, but numerous other shared candidate genes (such as CHCHD3, MACROD2, and the 16p11.2 region) were also revealed. Our results provide support for a role for rare CNVs in ADHD risk and reinforce evidence for the existence of common underlying susceptibility genes for ADHD, ASD, and other neuropsychiatric disorders.
- Published
- 2011
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