ArticleEuropean journal of human genetics : EJHG2015
Genome-wide analysis identifies a role for common copy number variants in specific language impairment.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 48 citations in OpenAlex.
- Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder.European journal of human genetics : EJHG · 2026Article
- Computational strategies for copy number variation detection, disease association, and beyond.Genome biology · 2026Review
- Unraveling the molecular interactions between α7 nicotinic receptor and a RIC3 variant associated with backward speech.Cellular and molecular life sciences : CMLS · 2024Article
- Rare copy number variants in males and females with childhood attention-deficit/hyperactivity disorder.Molecular psychiatry · 2023Article
- Dyslexia and Attention Deficit Hyperactivity Disorder Associated to a De Novo 1p34.3 Microdeletion.Genes · 2022Article
- The Genetic and Molecular Basis of Developmental Language Disorder: A Review.Children (Basel, Switzerland) · 2022Review
- A rare missense variant in the ATP2C2 gene is associated with language impairment and related measures.Human molecular genetics · 2021Article
- The Polygenic Nature and Complex Genetic Architecture of Specific Learning Disorder.Brain sciences · 2021Review
- Genome-Wide Association Study of Motor Coordination.Frontiers in human neuroscience · 2021Article
- Deep mixed model for marginal epistasis detection and population stratification correction in genome-wide association studies.BMC bioinformatics · 2019Article
- Using Polygenic Profiles to Predict Variation in Language and Psychosocial Outcomes in Early and Middle Childhood.Journal of speech, language, and hearing research : JSLHR · 2019Article
- Nicotinic acetylcholine receptor subunit αJournal of neurophysiology · 2019Article
- Generalized Structured Component Analysis in candidate gene association studies: applications and limitations.Wellcome open research · 2019Article
- Casein kinase 1α: biological mechanisms and theranostic potential.Cell communication and signaling : CCS · 2018Review
- Stage 2 Registered Report: Variation in neurodevelopmental outcomes in children with sex chromosome trisomies: testing the double hit hypothesis.Wellcome open research · 2018Article
- Genetic Approaches to Understanding Psychiatric Disease.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2017Review
- Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.Scientific reports · 2017Article
- Multidisciplinary investigation links backward-speech trait and working memory through genetic mutation.Scientific reports · 2016Article
- Risk Factors Associated With Language in Autism Spectrum Disorder: Clues to Underlying Mechanisms.Journal of speech, language, and hearing research : JSLHR · 2016Review
- Investigating the effects of copy number variants on reading and language performance.Journal of neurodevelopmental disorders · 2016Article
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Authors and funding
13 authors at 8 institutions in 2 countries.
Funding
Abstract
An exploratory genome-wide copy number variant (CNV) study was performed in 127 independent cases with specific language impairment (SLI), their first-degree relatives (385 individuals) and 269 population controls. Language-impaired cases showed an increased CNV burden in terms of the average number of events (11.28 vs 10.01, empirical P=0.003), the total length of CNVs (717 vs 513 Kb, empirical P=0.0001), the average CNV size (63.75 vs 51.6 Kb, empirical P=0.0005) and the number of genes spanned (14.29 vs 10.34, empirical P=0.0007) when compared with population controls, suggesting that CNVs may contribute to SLI risk. A similar trend was observed in first-degree relatives regardless of affection status. The increased burden found in our study was not driven by large or de novo events, which have been described as causative in other neurodevelopmental disorders. Nevertheless, de novo CNVs might be important on a case-by-case basis, as indicated by identification of events affecting relevant genes, such as ACTR2 and CSNK1A1, and small events within known micro-deletion/-duplication syndrome regions, such as chr8p23.1. Pathway analysis of the genes present within the CNVs of the independent cases identified significant overrepresentation of acetylcholine binding, cyclic-nucleotide phosphodiesterase activity and MHC proteins as compared with controls. Taken together, our data suggest that the majority of the risk conferred by CNVs in SLI is via common, inherited events within a 'common disorder-common variant' model. Therefore the risk conferred by CNVs will depend upon the combination of events inherited (both CNVs and SNPs), the genetic background of the individual and the environmental factors.
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