Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes
Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental disorders (NDDs). The vertebrate-specific astrotactins, ASTN2 and its paralog ASTN1, have key roles in glial-guided neuronal mig...
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| Published in | Human molecular genetics Vol. 23; no. 10; pp. 2752 - 2768 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
England
Oxford University Press
15.05.2014
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| Subjects | |
| Online Access | Get full text |
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| Abstract | Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental disorders (NDDs). The vertebrate-specific astrotactins, ASTN2 and its paralog ASTN1, have key roles in glial-guided neuronal migration during brain development. To determine the prevalence of astrotactin mutations and delineate their associated phenotypic spectrum, we screened ASTN2/TRIM32 and ASTN1 (1q25.2) for exonic CNVs in clinical microarray data from 89 985 individuals across 10 sites, including 64 114 NDD subjects. In this clinical dataset, we identified 46 deletions and 12 duplications affecting ASTN2. Deletions of ASTN1 were much rarer. Deletions near the 3′ terminus of ASTN2, which would disrupt all transcript isoforms (a subset of these deletions also included TRIM32), were significantly enriched in the NDD subjects (P = 0.002) compared with 44 085 population-based controls. Frequent phenotypes observed in individuals with such deletions include autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), speech delay, anxiety and obsessive compulsive disorder (OCD). The 3′-terminal ASTN2 deletions were significantly enriched compared with controls in males with NDDs, but not in females. Upon quantifying ASTN2 human brain RNA, we observed shorter isoforms expressed from an alternative transcription start site of recent evolutionary origin near the 3′ end. Spatiotemporal expression profiling in the human brain revealed consistently high ASTN1 expression while ASTN2 expression peaked in the early embryonic neocortex and postnatal cerebellar cortex. Our findings shed new light on the role of the astrotactins in psychopathology and their interplay in human neurodevelopment. |
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| AbstractList | Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental disorders (NDDs). The vertebrate-specific astrotactins, ASTN2 and its paralog ASTN1, have key roles in glial-guided neuronal migration during brain development. To determine the prevalence of astrotactin mutations and delineate their associated phenotypic spectrum, we screened ASTN2/TRIM32 and ASTN1 (1q25.2) for exonic CNVs in clinical microarray data from 89 985 individuals across 10 sites, including 64 114 NDD subjects. In this clinical dataset, we identified 46 deletions and 12 duplications affecting ASTN2. Deletions of ASTN1 were much rarer. Deletions near the 3' terminus of ASTN2, which would disrupt all transcript isoforms (a subset of these deletions also included TRIM32), were significantly enriched in the NDD subjects (P = 0.002) compared with 44 085 population-based controls. Frequent phenotypes observed in individuals with such deletions include autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), speech delay, anxiety and obsessive compulsive disorder (OCD). The 3'-terminal ASTN2 deletions were significantly enriched compared with controls in males with NDDs, but not in females. Upon quantifying ASTN2 human brain RNA, we observed shorter isoforms expressed from an alternative transcription start site of recent evolutionary origin near the 3' end. Spatiotemporal expression profiling in the human brain revealed consistently high ASTN1 expression while ASTN2 expression peaked in the early embryonic neocortex and postnatal cerebellar cortex. Our findings shed new light on the role of the astrotactins in psychopathology and their interplay in human neurodevelopment. Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental disorders (NDDs). The vertebrate-specific astrotactins, ASTN2 and its paralog ASTN1 , have key roles in glial-guided neuronal migration during brain development. To determine the prevalence of astrotactin mutations and delineate their associated phenotypic spectrum, we screened ASTN2/TRIM32 and ASTN1 (1q25.2) for exonic CNVs in clinical microarray data from 89 985 individuals across 10 sites, including 64 114 NDD subjects. In this clinical dataset, we identified 46 deletions and 12 duplications affecting ASTN2 . Deletions of ASTN1 were much rarer. Deletions near the 3′ terminus of ASTN2 , which would disrupt all transcript isoforms (a subset of these deletions also included TRIM32 ), were significantly enriched in the NDD subjects ( P = 0.002) compared with 44 085 population-based controls. Frequent phenotypes observed in individuals with such deletions include autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), speech delay, anxiety and obsessive compulsive disorder (OCD). The 3′-terminal ASTN2 deletions were significantly enriched compared with controls in males with NDDs, but not in females. Upon quantifying ASTN2 human brain RNA, we observed shorter isoforms expressed from an alternative transcription start site of recent evolutionary origin near the 3′ end. Spatiotemporal expression profiling in the human brain revealed consistently high ASTN1 expression while ASTN2 expression peaked in the early embryonic neocortex and postnatal cerebellar cortex. Our findings shed new light on the role of the astrotactins in psychopathology and their interplay in human neurodevelopment. Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental disorders (NDDs). The vertebrate-specific astrotactins, ASTN2 and its paralog ASTN1, have key roles in glial-guided neuronal migration during brain development. To determine the prevalence of astrotactin mutations and delineate their associated phenotypic spectrum, we screened ASTN2/TRIM32 and ASTN1 (1q25.2) for exonic CNVs in clinical microarray data from 89 985 individuals across 10 sites, including 64 114 NDD subjects. In this clinical dataset, we identified 46 deletions and 12 duplications affecting ASTN2. Deletions of ASTN1 were much rarer. Deletions near the 3' terminus of ASTN2, which would disrupt all transcript isoforms (a subset of these deletions also included TRIM32), were significantly enriched in the NDD subjects (P = 0.002) compared with 44 085 population-based controls. Frequent phenotypes observed in individuals with such deletions include autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), speech delay, anxiety and obsessive compulsive disorder (OCD). The 3'-terminal ASTN2 deletions were significantly enriched compared with controls in males with NDDs, but not in females. Upon quantifying ASTN2 human brain RNA, we observed shorter isoforms expressed from an alternative transcription start site of recent evolutionary origin near the 3' end. Spatiotemporal expression profiling in the human brain revealed consistently high ASTN1 expression while ASTN2 expression peaked in the early embryonic neocortex and postnatal cerebellar cortex. Our findings shed new light on the role of the astrotactins in psychopathology and their interplay in human neurodevelopment.Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental disorders (NDDs). The vertebrate-specific astrotactins, ASTN2 and its paralog ASTN1, have key roles in glial-guided neuronal migration during brain development. To determine the prevalence of astrotactin mutations and delineate their associated phenotypic spectrum, we screened ASTN2/TRIM32 and ASTN1 (1q25.2) for exonic CNVs in clinical microarray data from 89 985 individuals across 10 sites, including 64 114 NDD subjects. In this clinical dataset, we identified 46 deletions and 12 duplications affecting ASTN2. Deletions of ASTN1 were much rarer. Deletions near the 3' terminus of ASTN2, which would disrupt all transcript isoforms (a subset of these deletions also included TRIM32), were significantly enriched in the NDD subjects (P = 0.002) compared with 44 085 population-based controls. Frequent phenotypes observed in individuals with such deletions include autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), speech delay, anxiety and obsessive compulsive disorder (OCD). The 3'-terminal ASTN2 deletions were significantly enriched compared with controls in males with NDDs, but not in females. Upon quantifying ASTN2 human brain RNA, we observed shorter isoforms expressed from an alternative transcription start site of recent evolutionary origin near the 3' end. Spatiotemporal expression profiling in the human brain revealed consistently high ASTN1 expression while ASTN2 expression peaked in the early embryonic neocortex and postnatal cerebellar cortex. Our findings shed new light on the role of the astrotactins in psychopathology and their interplay in human neurodevelopment. |
| Author | Geraghty, Michael T. Tammimies, Kristiina Merico, Daniele Pillalamarri, Vamsee K. Chernos, Judy Marshall, Christian R. Thiruvahindrapuram, Bhooma Carter, Melissa T. Runke, Cassandra K. Leather, Susan Clayton-Smith, Jill Carella, Massimo Cavallari, Ugo Mandyam, Divya Lamoureux, Sylvia Fagerberg, Christina Gazzellone, Matthew J. Nardone, Anna M. Bader, Patricia I. Sorensen, Mark J. Wei, John Scherer, Stephen W. Schachar, Russell J. Tomiak, Eva M. Zwaigenbaum, Lonnie MacDonald, Jeffrey R. Melanie Bedford, H. Stavropoulos, Dimitri J. Rosenfeld, Jill A. Chrysler, Christina Eis, Peggy S. Roberts, Wendy Monica, Matteo Della Hodge, Jennelle C. Wu, Bai-Lin Poggiani, Carlo Fichera, Marco Cobb, David S. Ogilvie, Caroline Mackie Musumeci, Sebastiano Antonino Hatchwell, Eli Wang, Zhuozhi Romano, Corrado Novara, Francesca Noor, Abdul Brian Lowry, R. Woodbury-Smith, Marc Wilks, Timothy M. Soreni, Noam Howe, Jennifer L. Laulund, Lone W. Trounce, John Shen, Yiping Nalpathamkalam, Thomas Walker, Susan Szatmari, Peter Arnold, Paul D. Deshpande, Charu Argiropoul |
| AuthorAffiliation | 10 Department of Anatomical Pathology and Cytopathology , Calgary Laboratory Services , Calgary , Canada , AB T2L 2K8 59 Program in Neuroscience and Mental Health, The Hospital for Sick Children, Toronto, ON, Canada M5G 1X8 1 The Centre for Applied Genomics 56 Department of Genetics, Trillium Health Partners , Credit Valley Hospital Site , Mississauga, ON , Canada L5M 2N1 12 Cytogenetics Department and Clinical Genetics , Guy's and St Thomas’ NHS Foundation Trust , London, SE1 9RT , UK 24 Community Paediatrics , Lewisham Healthcare NHS Trust , London SE13 6LH , UK 58 Shanghai Children's Medical Center , Shanghai Jiaotong University School of Medicine , Shanghai 200127 , China 15 Department of Psychiatry , University of Toronto , Toronto, ON , Canada , M5T 1R8 19 Department of Neurology , Harvard Medical School, Harvard University , Boston, MA 02114 , USA 28 Department of Pediatrics, University of Ottawa 6 Cytogenetics Laboratory, GLS South, Alberta Health Services 43 Unit of Neurology 21 Departmen |
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| Snippet | Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with... Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with... |
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| SubjectTerms | Adolescent Adult Attention Deficit Disorder with Hyperactivity - genetics Case-Control Studies Child Child Development Disorders, Pervasive - genetics Child, Preschool Chromosomes, Human, Pair 9 DNA Copy Number Variations Exons Female Gene Expression Genetic Association Studies Genetic Predisposition to Disease Glycoproteins - genetics Glycoproteins - metabolism Humans Infant Infant, Newborn Male Nerve Tissue Proteins - genetics Nerve Tissue Proteins - metabolism Organ Specificity Phenotype Polymorphism, Single Nucleotide Protein Isoforms - genetics Protein Isoforms - metabolism Receptors, Cell Surface - genetics Receptors, Cell Surface - metabolism Risk Factors Sequence Deletion Transcription Factors - genetics Transcription Factors - metabolism Transcription Initiation Site Tripartite Motif Proteins Ubiquitin-Protein Ligases Young Adult |
| Title | Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes |
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