dc.contributor.author | MERIKANGAS, ALISON | en |
dc.contributor.author | GALLAGHER, LOUISE | en |
dc.contributor.author | BOLSHAKOVA, NADIA | en |
dc.date.accessioned | 2014-11-24T12:27:03Z | |
dc.date.available | 2014-11-24T12:27:03Z | |
dc.date.issued | 2014 | en |
dc.date.submitted | 2014 | en |
dc.identifier.citation | Pinto, D., Delaby, E., Merico, D., (...), Betancur, C., Scherer, StephenW., Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders, American Journal of Human Genetics, 94, 5, 2014, 77 694 | en |
dc.identifier.other | Y | en |
dc.identifier.uri | http://hdl.handle.net/2262/72135 | |
dc.description | PUBLISHED | en |
dc.description.abstract | Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 × 10−5) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD and intellectual disability (odds ratio = 12.62, p = 2.7 × 10−15, ∼3% of ASD subjects). Pathogenic CNVs, often showing variable expressivity, included rare de novo and inherited events at 36 loci, implicating ASD-associated genes (CHD2, HDAC4, and GDI1) previously linked to other neurodevelopmental disorders, as well as other genes such as SETD5, MIR137, and HDAC9. Consistent with hypothesized gender-specific modulators, females with ASD were more likely to have highly penetrant CNVs (p = 0.017) and were also overrepresented among subjects with fragile X syndrome protein targets (p = 0.02). Genes affected by de novo CNVs and/or loss-of-function single-nucleotide variants converged on networks related to neuronal signaling and development, synapse function, and chromatin regulation. | en |
dc.format.extent | 77-694 | en |
dc.language.iso | en | en |
dc.relation.ispartofseries | American Journal of Human Genetics | en |
dc.relation.ispartofseries | 94 | en |
dc.relation.ispartofseries | 5 | en |
dc.rights | Y | en |
dc.subject | Autism | en |
dc.title | Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders | en |
dc.type | Journal Article | en |
dc.type.supercollection | scholarly_publications | en |
dc.type.supercollection | refereed_publications | en |
dc.identifier.peoplefinderurl | http://people.tcd.ie/lgallagh | en |
dc.identifier.peoplefinderurl | http://people.tcd.ie/bolshakn | en |
dc.identifier.peoplefinderurl | http://people.tcd.ie/merikaa | en |
dc.identifier.rssinternalid | 94459 | en |
dc.identifier.doi | http://dx.doi.org/10.1016/j.ajhg.2014.03.018 | en |
dc.rights.ecaccessrights | openAccess | |