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6. Sufficient Sleep Duration in Autistic Children and the Role of Physical Activity

Author

Elkhatib Smidt, Stacey D., Gooneratne, Nalaka, Brodkin, Edward S., Bucan, Maja, and Mitchell, Jonathan A.

Abstract

Emerging evidence suggests that physical activity may be associated with improved sleep in autistic children. We aimed to determine whether physical activity associated with sufficient sleep duration in children and whether this association was modified by reported autism spectrum disorder (ASD) status. We analyzed existing data of children 6-17 years old whose caregivers completed the 2018 National Survey of Children's Health (nonautistic N = 20,845; ASD N = 681). Logistic regression determined whether physical activity (days active in the past week) associated with sufficient sleep duration. Physical activity-by-ASD interactions were included to determine whether the association differed for autistic children. Physical activity-by-ASD-by-sex and physical activity-by-ASD-by-age-group interactions were also modeled. Physical activity was associated with increased odds of sufficient sleep duration (e.g. 0 days vs 4-6 days: odds ratio (OR) = 1.85; 95% confidence interval (CI): 1.48-2.32). We did not observe an overall statistically significant interaction between physical activity and reported ASD status; however, the positive association between physical activity and sufficient sleep duration was weaker in autistic children, especially those with more severe ASD, female autistic children, and autistic children ages 6-12 years old. In conclusion, physical activity is a promising approach to improve sufficient sleep duration but with nuanced findings in autistic children.

Published
2022
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7. Human and mouse essentiality screens as a resource for disease gene discovery

Author

Cacheiro, Pilar, Muñoz-Fuentes, Violeta, Murray, Stephen A, Dickinson, Mary E, Bucan, Maja, Nutter, Lauryl MJ, Peterson, Kevin A, Haselimashhadi, Hamed, Flenniken, Ann M, Morgan, Hugh, Westerberg, Henrik, Konopka, Tomasz, Hsu, Chih-Wei, Christiansen, Audrey, Lanza, Denise G, Beaudet, Arthur L, Heaney, Jason D, Fuchs, Helmut, Gailus-Durner, Valerie, Sorg, Tania, Prochazka, Jan, Novosadova, Vendula, Lelliott, Christopher J, Wardle-Jones, Hannah, Wells, Sara, Teboul, Lydia, Cater, Heather, Stewart, Michelle, Hough, Tertius, Wurst, Wolfgang, Sedlacek, Radislav, Adams, David J, Seavitt, John R, Tocchini-Valentini, Glauco, Mammano, Fabio, Braun, Robert E, McKerlie, Colin, Herault, Yann, de Angelis, Martin Hrabě, Mallon, Ann-Marie, Lloyd, KC Kent, Brown, Steve DM, Parkinson, Helen, Meehan, Terrence F, and Smedley, Damian

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Biotechnology, Human Genome, Prevention, 2.1 Biological and endogenous factors, Aetiology, Generic health relevance, Good Health and Well Being, Animals, Disease, Genes, Essential, Genetic Association Studies, Genomics, Humans, Mice, Mice, Knockout, Genomics England Research Consortium, International Mouse Phenotyping Consortium
Abstract

The identification of causal variants in sequencing studies remains a considerable challenge that can be partially addressed by new gene-specific knowledge. Here, we integrate measures of how essential a gene is to supporting life, as inferred from viability and phenotyping screens performed on knockout mice by the International Mouse Phenotyping Consortium and essentiality screens carried out on human cell lines. We propose a cross-species gene classification across the Full Spectrum of Intolerance to Loss-of-function (FUSIL) and demonstrate that genes in five mutually exclusive FUSIL categories have differing biological properties. Most notably, Mendelian disease genes, particularly those associated with developmental disorders, are highly overrepresented among genes non-essential for cell survival but required for organism development. After screening developmental disorder cases from three independent disease sequencing consortia, we identify potentially pathogenic variants in genes not previously associated with rare diseases. We therefore propose FUSIL as an efficient approach for disease gene discovery.

Published
2020

9. Self-supervised learning of accelerometer data provides new insights for sleep and its association with mortality

Author

Doherty, Aiden, primary, Yuan, Hang, additional, Plekhanova, Tatiana, additional, Walmsley, Rosemary, additional, Reynolds, Amy, additional, Maddison, Kathleen, additional, Bucan, Maja, additional, Gehrman, Philip, additional, Rowlands, Alex, additional, Ray, David, additional, Bennett, Derrick, additional, McVeigh, Joanne, additional, Straker, Leon, additional, Eastwood, Peter, additional, and Kyle, Simon, additional

Published
2023
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10. Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Author

Pizzo, Lucilla, Jensen, Matthew, Polyak, Andrew, Rosenfeld, Jill A., Mannik, Katrin, Krishnan, Arjun, McCready, Elizabeth, Pichon, Olivier, Le Caignec, Cedric, Van Dijck, Anke, Pope, Kate, Voorhoeve, Els, Yoon, Jieun, Stankiewicz, Paweł, Cheung, Sau Wai, Pazuchanics, Damian, Huber, Emily, Kumar, Vijay, Kember, Rachel L., Mari, Francesca, Curró, Aurora, Castiglia, Lucia, Galesi, Ornella, Avola, Emanuela, Mattina, Teresa, Fichera, Marco, Mandarà, Luana, Vincent, Marie, Nizon, Mathilde, Mercier, Sandra, Bénéteau, Claire, Blesson, Sophie, Martin-Coignard, Dominique, Mosca-Boidron, Anne-Laure, Caberg, Jean-Hubert, Bucan, Maja, Zeesman, Susan, Nowaczyk, Małgorzata J. M., Lefebvre, Mathilde, Faivre, Laurence, Callier, Patrick, Skinner, Cindy, Keren, Boris, Perrine, Charles, Prontera, Paolo, Marle, Nathalie, Renieri, Alessandra, Reymond, Alexandre, Kooy, R. Frank, Isidor, Bertrand, Schwartz, Charles, Romano, Corrado, Sistermans, Erik, Amor, David J., Andrieux, Joris, and Girirajan, Santhosh

Published
2019
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11. Rediscovering the value of families for psychiatric genetics research

Author

Glahn, David C., Nimgaonkar, Vishwajit L., Raventós, Henriette, Contreras, Javier, McIntosh, Andrew M., Thomson, Pippa A., Jablensky, Assen, McCarthy, Nina S., Charlesworth, Jac C., Blackburn, Nicholas B., Peralta, Juan Manuel, Knowles, Emma E. M., Mathias, Samuel R., Ament, Seth A., McMahon, Francis J., Gur, Ruben C., Bucan, Maja, Curran, Joanne E., Almasy, Laura, Gur, Raquel E., and Blangero, John

Published
2019
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12. Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.

Author

Bucan, Maja, Abrahams, Brett S, Wang, Kai, Glessner, Joseph T, Herman, Edward I, Sonnenblick, Lisa I, Alvarez Retuerto, Ana I, Imielinski, Marcin, Hadley, Dexter, Bradfield, Jonathan P, Kim, Cecilia, Gidaya, Nicole B, Lindquist, Ingrid, Hutman, Ted, Sigman, Marian, Kustanovich, Vlad, Lajonchere, Clara M, Singleton, Andrew, Kim, Junhyong, Wassink, Thomas H, McMahon, William M, Owley, Thomas, Sweeney, John A, Coon, Hilary, Nurnberger, John I, Li, Mingyao, Cantor, Rita M, Minshew, Nancy J, Sutcliffe, James S, Cook, Edwin H, Dawson, Geraldine, Buxbaum, Joseph D, Grant, Struan FA, Schellenberg, Gerard D, Geschwind, Daniel H, and Hakonarson, Hakon

Subjects
Humans, Genetic Predisposition to Disease, Ubiquitin-Protein Ligases, Cell Adhesion Molecules, Neuronal, Nerve Tissue Proteins, Case-Control Studies, Cohort Studies, Pedigree, Autistic Disorder, Gene Duplication, Sequence Deletion, Gene Dosage, Exons, Adolescent, Child, Child, Preschool, Female, Male, Genome-Wide Association Study, Young Adult, Cell Adhesion Molecules, Neuronal, Preschool, Genetics, Developmental Biology
Abstract

The genetics underlying the autism spectrum disorders (ASDs) is complex and remains poorly understood. Previous work has demonstrated an important role for structural variation in a subset of cases, but has lacked the resolution necessary to move beyond detection of large regions of potential interest to identification of individual genes. To pinpoint genes likely to contribute to ASD etiology, we performed high density genotyping in 912 multiplex families from the Autism Genetics Resource Exchange (AGRE) collection and contrasted results to those obtained for 1,488 healthy controls. Through prioritization of exonic deletions (eDels), exonic duplications (eDups), and whole gene duplication events (gDups), we identified more than 150 loci harboring rare variants in multiple unrelated probands, but no controls. Importantly, 27 of these were confirmed on examination of an independent replication cohort comprised of 859 cases and an additional 1,051 controls. Rare variants at known loci, including exonic deletions at NRXN1 and whole gene duplications encompassing UBE3A and several other genes in the 15q11-q13 region, were observed in the course of these analyses. Strong support was likewise observed for previously unreported genes such as BZRAP1, an adaptor molecule known to regulate synaptic transmission, with eDels or eDups observed in twelve unrelated cases but no controls (p = 2.3x10(-5)). Less is known about MDGA2, likewise observed to be case-specific (p = 1.3x10(-4)). But, it is notable that the encoded protein shows an unexpectedly high similarity to Contactin 4 (BLAST E-value = 3x10(-39)), which has also been linked to disease. That hundreds of distinct rare variants were each seen only once further highlights complexity in the ASDs and points to the continued need for larger cohorts.

Published
2009

13. Self-supervised learning of accelerometer data provides new insights for sleep and its association with mortality

Author

Yuan, Hang, primary, Plekhanova, Tatiana, additional, Walmsley, Rosemary, additional, Reynolds, Amy C., additional, Maddison, Kathleen J., additional, Bucan, Maja, additional, Gehrman, Philip, additional, Rowlands, Alex, additional, Ray, David W., additional, Bennett, Derrick, additional, McVeigh, Joanne, additional, Straker, Leon, additional, Eastwood, Peter, additional, Kyle, Simon D., additional, and Doherty, Aiden, additional

Published
2023
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16. Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Author

Szatmari, Peter, Paterson, Andrew D, Zwaigenbaum, Lonnie, Roberts, Wendy, Brian, Jessica, Liu, Xiao-Qing, Vincent, John B, Skaug, Jennifer L, Thompson, Ann P, Senman, Lili, Feuk, Lars, Qian, Cheng, Bryson, Susan E, Jones, Marshall B, Marshall, Christian R, Scherer, Stephen W, Vieland, Veronica J, Bartlett, Christopher, Mangin, La Vonne, Goedken, Rhinda, Segre, Alberto, Pericak-Vance, Margaret A, Cuccaro, Michael L, Gilbert, John R, Wright, Harry H, Abramson, Ruth K, Betancur, Catalina, Bourgeron, Thomas, Gillberg, Christopher, Leboyer, Marion, Buxbaum, Joseph D, Davis, Kenneth L, Hollander, Eric, Silverman, Jeremy M, Hallmayer, Joachim, Lotspeich, Linda, Sutcliffe, James S, Haines, Jonathan L, Folstein, Susan E, Piven, Joseph, Wassink, Thomas H, Sheffield, Val, Geschwind, Daniel H, Bucan, Maja, Brown, W Ted, Cantor, Rita M, Constantino, John N, Gilliam, T Conrad, Herbert, Martha, LaJonchere, Clara, Ledbetter, David H, Lese-Martin, Christa, Miller, Janet, Nelson, Stan, Samango-Sprouse, Carol A, Spence, Sarah, State, Matthew, Tanzi, Rudolph E, Coon, Hilary, Dawson, Geraldine, Devlin, Bernie, Estes, Annette, Flodman, Pamela, Klei, Lambertus, McMahon, William M, Minshew, Nancy, Munson, Jeff, Korvatska, Elena, Rodier, Patricia M, Schellenberg, Gerard D, Smith, Moyra, Spence, M Anne, Stodgell, Chris, Tepper, Ping Guo, Wijsman, Ellen M, Yu, Chang-En, Roge, Bernadette, Mantoulan, Carine, Wittemeyer, Kerstin, Poustka, Annemarie, Felder, Barbel, Klauck, Sabine M, Schuster, Claudia, Poustka, Fritz, Boelte, Sven, Feineis-Matthews, Sabine, Herbrecht, Evelyn, Schmoetzer, Gabi, Tsiantis, John, Papanikolaou, Katerina, Maestrini, Elena, Bacchelli, Elena, Blasi, Francesca, Carone, Simona, Toma, Claudio, Van Engeland, Herman, de Jonge, Maretha, Kemner, Chantal, Koop, Frederike, and Langemeijer, Marjolijn

Subjects
Biological Sciences, Genetics, Human Genome, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Mental Health, Pediatric Research Initiative, Pediatric, Autism, Autistic Disorder, Chromosome Aberrations, Chromosome Mapping, Family, Female, Genetic Linkage, Genetic Predisposition to Disease, Genetic Testing, Genetic Variation, Humans, Lod Score, Male, Risk Factors, Autism Genome Project Consortium, glutamic acid, neurexin, neuroligin, adult, analytical equipment, article, autism, chromosome 11p, chromosome rearrangement, controlled study, family, female, gene locus, gene mapping, genetic analysis, genetic linkage, genetic risk, genetic variability, human, major clinical study, male, microarray analysis, priority journal, sample size, single nucleotide polymorphism, synaptogenesis, Genetic Screening, Linkage, Variation, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs.

Published
2007

17. Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

Author

Autism Genome Project Consortium, Szatmari, Peter, Paterson, Andrew D, Zwaigenbaum, Lonnie, Roberts, Wendy, Brian, Jessica, Liu, Xiao-Qing, Vincent, John B, Skaug, Jennifer L, Thompson, Ann P, Senman, Lili, Feuk, Lars, Qian, Cheng, Bryson, Susan E, Jones, Marshall B, Marshall, Christian R, Scherer, Stephen W, Vieland, Veronica J, Bartlett, Christopher, Mangin, La Vonne, Goedken, Rhinda, Segre, Alberto, Pericak-Vance, Margaret A, Cuccaro, Michael L, Gilbert, John R, Wright, Harry H, Abramson, Ruth K, Betancur, Catalina, Bourgeron, Thomas, Gillberg, Christopher, Leboyer, Marion, Buxbaum, Joseph D, Davis, Kenneth L, Hollander, Eric, Silverman, Jeremy M, Hallmayer, Joachim, Lotspeich, Linda, Sutcliffe, James S, Haines, Jonathan L, Folstein, Susan E, Piven, Joseph, Wassink, Thomas H, Sheffield, Val, Geschwind, Daniel H, Bucan, Maja, Brown, W Ted, Cantor, Rita M, Constantino, John N, Gilliam, T Conrad, Herbert, Martha, Lajonchere, Clara, Ledbetter, David H, Lese-Martin, Christa, Miller, Janet, Nelson, Stan, Samango-Sprouse, Carol A, Spence, Sarah, State, Matthew, Tanzi, Rudolph E, Coon, Hilary, Dawson, Geraldine, Devlin, Bernie, Estes, Annette, Flodman, Pamela, Klei, Lambertus, McMahon, William M, Minshew, Nancy, Munson, Jeff, Korvatska, Elena, Rodier, Patricia M, Schellenberg, Gerard D, Smith, Moyra, Spence, M Anne, Stodgell, Chris, Tepper, Ping Guo, Wijsman, Ellen M, Yu, Chang-En, Rogé, Bernadette, Mantoulan, Carine, Wittemeyer, Kerstin, Poustka, Annemarie, Felder, Bärbel, Klauck, Sabine M, Schuster, Claudia, Poustka, Fritz, Bölte, Sven, Feineis-Matthews, Sabine, Herbrecht, Evelyn, Schmötzer, Gabi, Tsiantis, John, Papanikolaou, Katerina, Maestrini, Elena, Bacchelli, Elena, Blasi, Francesca, Carone, Simona, Toma, Claudio, Van Engeland, Herman, de Jonge, Maretha, Kemner, Chantal, and Koop, Frederieke

Subjects
Autism Genome Project Consortium, Humans, Chromosome Aberrations, Genetic Predisposition to Disease, Risk Factors, Chromosome Mapping, Family, Autistic Disorder, Lod Score, Female, Male, Genetic Variation, Genetic Testing, Genetic Linkage, Intellectual and Developmental Disabilities (IDD), Pediatric Research Initiative, Human Genome, Pediatric, Brain Disorders, Genetics, Autism, Mental Health, glutamic acid, neurexin, neuroligin, adult, analytical equipment, article, autism, chromosome 11p, chromosome rearrangement, controlled study, family, female, gene locus, gene mapping, genetic analysis, genetic linkage, genetic risk, genetic variability, human, major clinical study, male, microarray analysis, priority journal, sample size, single nucleotide polymorphism, synaptogenesis, Genetic Screening, Linkage, Variation, Developmental Biology, Biological Sciences, Medical and Health Sciences
Abstract

Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs.

Published
2007

18. Functional Annotation of Mouse Genome Sequences

Author

Nadeau, Joseph H., Balling, Rudi, Barsh, Greg, Beier, David, Brown, S. D. M., Bucan, Maja, Camper, Sally, Carlson, George, Copeland, Neal, Eppig, Janan, Fletcher, Colin, Frankel, Wayne N., Ganten, Detlev, Goldowitz, Dan, Goodnow, Chris, Guenet, Jean-Louis, Hicks, Geoff, de Angelis, Martin Hrabe, Jackson, Ian, Jacob, Howard J., Jenkins, Nancy, Johnson, Dabney, Justice, Monica, Kay, Steve, Kingsley, David, Lehrach, Hans, Magnuson, Terry, Meisler, Miriam, Poustka, AnneMarie, Rinchik, Eugene M., Rossant, Janet, Russell, Lee B., Schimenti, John, Shiroishi, Toshihiko, Skarnes, William C., Soriano, Phil, Stanford, William, Takahashi, Joseph S., Wurst, Wolfgang, and Zimmer, Andreas

Published
2001

26. Heritability of quantitative autism spectrum traits in adults: A family‐based study

Author

Taylor, Sara C., primary, Steeman, Samantha, additional, Gehringer, Brielle N., additional, Dow, Holly C., additional, Langer, Allison, additional, Rawot, Eric, additional, Perez, Leat, additional, Goodman, Matthew, additional, Smernoff, Zoe, additional, Grewal, Mahip, additional, Eshraghi, Oceania, additional, Pallathra, Ashley A., additional, Oksas, Catherine, additional, Mendez, Melissa, additional, Gur, Ruben C., additional, Rader, Daniel J., additional, Bucan, Maja, additional, Almasy, Laura, additional, and Brodkin, Edward S., additional

Published
2021
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28. Common genetic variants on 5p14.1 associate with autism spectrum disorders

Author

Wang, Kai, Zhang, Haitao, Ma, Deqiong, Bucan, Maja, Glessner, Joseph T., Abrahams, Brett S., Salyakina, Daria, Imielinski, Marcin, Bradfield, Jonathan P., Sleiman, Patrick M.A., Kim, Cecilia E., Hou, Cuiping, Frackelton, Edward, Chiavacci, Rosetta, Takahashi, Nagahide, Sakurai, Takeshi, Rappaport, Eric, Lajonchere, Clara M., Munson, Jeffrey, Estes, Annette, Korvatska, Olena, Piven, Joseph, Sonnenblick, Lisa I., Retuerto, Ana I. Alvarez, Herman, Edward I., Hutman, Ted, Sigman, Marian, Ozonoff, Sally, Klin, Ami, Owley, Thomas, Sweeney, John A., Brune, Camille W., Cantor, Rita M., Bernier, Raphael, Gilbert, John R., Cuccaro, Michael L., McMahon, William M., Miller, Judith, State, Matthew W., Wassink, Thomas H., Coon, Hilary, Levy, Susan E., Schult, Robert T., Nurnberger, John I. Jr., Haines, Jonathan L., Sutcliffe, James S., Cook, Edwin H., Minshew, Nancy J., Buxbaums, Joseph D., Dawson, Geraldine, Grant, Struan F.A., Geschwind, Daniel H., Pericak-Vance, Margaret A., Schellenberg, Gerard D., and Hakonarson, Hakon

Subjects
Pervasive developmental disorders -- Genetic aspects -- Risk factors, Genetic research -- Genetic aspects, Environmental issues, Science and technology, Zoology and wildlife conservation, Genetic aspects, Risk factors
Abstract

Autism spectrum disorders (ASDs) represent a group of childhood neurodevelopmental and neuropsychiatric disorders characterized by deficits in verbal communication, impairment of social interaction, and restricted and repetitive patterns of interests and behaviour. To identify common genetic risk factors underlying ASDs, here we present the results of genome-wide association studies on a cohort of 780 families (3,101 subjects) with affected children, and a second cohort of 1,204 affected subjects and 6,491 control subjects, all of whom were of European ancestry. Six single nucleotide polymorphisms between cadherin 10 (CDH10) and cadherin 9 (CDH9)-two genes encoding neuronal cell-adhesion molecules-revealed strong association signals, with the most significant SNP being rs4307059 (P = 3.4 X [10.sup.-8], odds ratio =1.19). These signals were replicated in two independent cohorts, with combined Pvalues ranging from 7.4 X [10.sup.-8] to 2.1 X [10.sup.-10]. Our results implicate neuronal cell-adhesion molecules in the pathogenesis of ASDs, and represent, to our knowledge, the first demonstration of genome-wide significant association of common variants with susceptibility to ASDs., ASDs encompass a range of clinically defined conditions, including autism and pervasive developmental disorder not otherwise specified, which are more common and severe, as well as Asperger's syndrome, which appears [...]

Published
2009

29. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

Author

Wang, Kai, Cai, Guiqing, Korvatska, Olena, Kim, Cecilia E., Wood, Shawn, Zhang, Haitao, Estes, Annette, Brune, Camille W., Bradfield, Jonathan P., Imielinski, Marcin, Frackelton, Edward C., Reichert, Jennifer, Crawford, Emily L., Munson, Jeffrey, Sleiman, Patrick M.A., Chiavacci, Rosetta, Annaiah, Kiran, Thomas, Kelly, Hou, Cuiping, Glaberson, Wendy, Flory, James, Otieno, Frederick, Garris, Maria, Soorya, Latha, Klei, Lambertus, Piven, Joseph, Meyer, Kacie J., Anagnostou, Evdokia, Sakurai, Takeshi, Game, Rachel M., Rudd, Danielle S., Zurawiecki, Danielle, McDouglelo, Christopher J., Davis, Lea K., Miller, Judith, Posey, David J., Michaels, Shana, Kolevzon, Alexander, Silverman, Jeremy M., Bernier, Raphael, Levy, Susan E., Schultz, Robert T., Dawson, Geraldine, Owleys, Thomas, McMahon, William M., Wassink, Thomas H., Sweeney, John A., Nurnberger, Jr., John I., Coon, Hilary, Sutcliffe, James S., Minshew, Nancy J., Grant, Struan F.A., Bucan, Maja, Cook, Jr., Edwin H., Buxbaum, Joseph D., Devlin, Bernie D., Schellenberg, Gerard D., and Hakonarson, Hakon

Subjects
Neurons -- Properties -- Genetic aspects, Ubiquitin -- Properties -- Genetic aspects, Autism -- Genetic aspects, Environmental issues, Science and technology, Zoology and wildlife conservation, Genetic aspects, Properties
Abstract

Autism spectrum disorders (ASDs) are childhood neurodevelopmental disorders with complex genetic origins(1-4). Previous studies focusing on candidate genes or genomic regions have identified several copy number variations (CNVs) that are associated with an increased risk of ASDs(5-9). Here we present the results from a whole-genome CNV study on a cohort of 859 ASD cases and 1,409 healthy children of European ancestry who were genotyped with 550,000 single nucleotide polymorphism markers, in an attempt to comprehensively identify CNVs conferring susceptibility to ASDs. Positive findings were evaluated in an independent cohort of 1,336 ASD cases and 1,110 controls of European ancestry. Besides previously reported ASD candidate genes, such as NRXNI (ref. 10) and CNTN4 (refs 11, 12), several new susceptibility genes encoding neuronal cell-adhesion molecules, including NLGNI and ASTN2, were enriched with CNVs in ASD cases compared to controls (P = 9.5 x [10.sup.-3]). Furthermore, CNVs within or surrounding genes involved in the ubiquitin pathways, including UBE3A, PARKZ RFWD2 and FBX040, were affected by CNVs not observed in controls (P= 3.3 x [10.sup.-3]). We also identified duplications 55 kilobases upstream of complementary DNA AK123120 (P=3.6 x [10.sup.-6]). Although these variants may be individually rare, they target genes involved in neuronal cell-adhesion or ubiquitin degradation, indicating that these two important gene networks expressed within the central nervous system may contribute to the genetic susceptibility of ASD., ASDs, including autism, are neurodevelopmental disorders characterized by impairments in social and communication skills, as well as stereotyped and repetitive behaviours and/or a restricted range of interests. Current prevalence estimates [...]

Published
2009

31. 768 The Relationship Between Circadian Rhythm and Autism Spectrum Disorder Traits and Executive Function Across the Life Span

Author

Smidt, Stacey Elkhatib, primary, Ghorai, Arpita, additional, Gehringer, Brielle, additional, Dow, Holly, additional, Smernoff, Zoe, additional, Taylor, Sara, additional, Rawot, Eric, additional, Langer, Allison, additional, Zhang, Jing, additional, Rader, Daniel, additional, Almasy, Laura, additional, Brodkin, Edward, additional, and Bucan, Maja, additional

Published
2021
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32. Nuclear receptor corepressor and histone deacetylase 3 govern circadian metabolic physiology

Author

Alenghat, Theresa, Meyers, Katherine, Mullican, Shannon E., Leitner, Kirstin, Adeniji-Adele, Adetoun, Avila, Jacqueline, Bucan, Maja, Ahima, Rexford S., Kaestner, Klaus H., and Lazar, Mitchell A.

Subjects
Histones -- Health aspects, Circadian rhythms -- Genetic aspects -- Health aspects, Environmental issues, Science and technology, Zoology and wildlife conservation, Genetic aspects, Health aspects
Abstract

Rhythmic changes in histone acetylation at circadian clock genes suggest that temporalmodulation of gene expression is regulated by chromatin modifications (1-3). Furthermore, recent studies demonstrate a critical relationship between circadian [...]

Published
2008

33. Genotype, haplotype and copy-number variation in worldwide human populations

Author

Jakobsson, Mattias, Scholz, Sonja W., Scheet, Paul, Gibbs, J. Raphael, VanLiere, Jenna M., Fung, Hon-Chung, Szpiech, Zachary A., Degnan, James H., Wang, Kai, Guerreiro, Rita, Bras, Jose M., Schymick, Jennifer C., Hernandez, Dena G., Traynor, Bryan J., Simon-Sanchez, Javier, Matarin, Mar, Britton, Angela, van de Leemput, Joyce, Rafferty, Ian, Bucan, Maja, Cann, Howard M., Hardy, John A., Rosenberg, Noah A., and Singleton, Andrew B.

Subjects
Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Genome-wide patterns of variation across individuals provide a powerful source of data for uncovering the history of migration, range expansion, and adaptation of the human species. However, high-resolution surveys of [...]

Published
2008

35. Pathway-based approaches for analysis of genomewide association studies

Author

Kai Wang, Mingyao Li, and Bucan, Maja

Subjects
DNA microarrays -- Research, Human genome -- Research, Single nucleotide polymorphisms -- Research, Biological sciences
Abstract

Pathway-based approach using microarray data analysis for genomewide association (GWA) studies is presented. This approach is important in interpreting GWA data for identifying complex diseases.

Published
2007

36. Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications

Author

Myers, Lynnea, Blyth, Moira, Moradkhani, Kamran, Hranilović, Dubravka, Polesie, Sam, Isaksson, Johan, Nordgren, Ann, Bucan, Maja, Vincent, Marie, Bölte, Sven, Anderlid, Britt-Marie, Tammimies, Kristiina, Myers, Lynnea, Blyth, Moira, Moradkhani, Kamran, Hranilović, Dubravka, Polesie, Sam, Isaksson, Johan, Nordgren, Ann, Bucan, Maja, Vincent, Marie, Bölte, Sven, Anderlid, Britt-Marie, and Tammimies, Kristiina

Abstract

BACKGROUND: Variable size deletions affecting 12q12 have been found in individuals with neurodevelopmental disorders (NDDs) and distinct facial and physical features. For many genetic loci affected by deletions in individuals with NDDs, reciprocal duplications have been described. However, for the 12q12 region, there are no detailed descriptions of duplication cases in the literature. METHODS: We report a phenotypic description of a family with monozygotic twins diagnosed with NDDs, carrying a 9 Mb duplication at 12q12, and five other individuals with overlapping duplications ranging from 4.54 Mb up to 15.16 Mb. RESULTS: The duplication carriers had language delays, cognitive delays, and were diagnosed with autism spectrum disorder. Additionally, distinct facial features (e.g., high foreheads, deeply set eyes, short palpebral fissures, small ears, high nasal bridges, abnormalities of the nose tip, thin lips), large feet, and abnormalities in the digits were noted. We also describe incomplete penetrance of the NDD phenotypes among the individuals with 12q12 duplication. CONCLUSION: This case series expands our knowledge on this rare genetic aberration and suggests that large 12q12 duplications may increase the risk for developing NDDs.

Published
2020
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41. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

Author

Glessner, Joseph T., Wang, Kai, Cai, Guiqing, Korvatska, Olena, Kim, Cecilia E., Wood, Shawn, Zhang, Haitao, Estes, Annette, Brune, Camille W., Bradfield, Jonathan P., Imielinski, Marcin, Frackelton, Edward C., Reichert, Jennifer, Crawford, Emily L., Munson, Jeffrey, Sleiman, Patrick M. A., Chiavacci, Rosetta, Annaiah, Kiran, Thomas, Kelly, Hou, Cuiping, Glaberson, Wendy, Flory, James, Otieno, Frederick, Garris, Maria, Soorya, Latha, Klei, Lambertus, Piven, Joseph, Meyer, Kacie J., Anagnostou, Evdokia, Sakurai, Takeshi, Game, Rachel M., Rudd, Danielle S., Zurawiecki, Danielle, McDougle, Christopher J., Davis, Lea K., Miller, Judith, Posey, David J., Michaels, Shana, Kolevzon, Alexander, Silverman, Jeremy M., Bernier, Raphael, Levy, Susan E., Schultz, Robert T., Dawson, Geraldine, Owley, Thomas, McMahon, William M., Wassink, Thomas H., Sweeney, John A., Nurnberger, John I., Coon, Hilary, Sutcliffe, James S., Minshew, Nancy J., Grant, Struan F. A., Bucan, Maja, Cook, Edwin H., Buxbaum, Joseph D., Devlin, Bernie, Schellenberg, Gerard D., and Hakonarson, Hakon

Published
2009
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49. Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications

Author

Myers, Lynnea '05, Blyth, Moira; Moradkhani, Kamran; Hranilovic, Dubravka; Polesi, Sam; Isaksson, Johan; Nordgren, Ann; Bucan, Maja; Vincent, Marie; Bölte, Sven; Anderlid, Britt-Marie; Tammimies, Kristiina, Myers, Lynnea '05, and Blyth, Moira; Moradkhani, Kamran; Hranilovic, Dubravka; Polesi, Sam; Isaksson, Johan; Nordgren, Ann; Bucan, Maja; Vincent, Marie; Bölte, Sven; Anderlid, Britt-Marie; Tammimies, Kristiina

Abstract

We report a phenotypic description of a family with monozygotic twins diagnosed with NDDs, carrying a 9 Mb duplication at 12q12, and five other individuals with overlapping duplications ranging from 4.54 Mb up to 15.16 Mb.

Published
2019

50. A DNA Segment Encoding Two Genes Very Tightly Linked to Huntington's Disease

Author

Gilliam, T. Conrad, Bucan, Maja, MacDonald, Marcy E., Zimmer, Michael, Haines, Jonathan L., Cheng, Shirley V., Pohl, Thomas M., Meyers, Richard H., Whaley, William L., Allitto, Bernice A., Faryniarz, Anne, Wasmuth, John J., Frischauf, Anna-Maria, Conneally, P. Michael, Lehrach, Hans, and Gusella, James F.

Published
1987

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