ArticleJournal of neurodevelopmental disorders2016
Investigating the effects of copy number variants on reading and language performance.
Article in Journal of neurodevelopmental disorders, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study.Molecular psychiatry · 2021Pooled it
- Clinical Variability Including Non-Dilated Left Ventricular and Dilated Cardiomyopathy in a Pedigree With an Intragenic CTNNA3 Copy Number Variation.Clinical genetics · 2026Article
- Importance of copy number variants in childhood apraxia of speech and other speech sound disorders.Communications biology · 2024Article
- Unraveling the molecular interactions between α7 nicotinic receptor and a RIC3 variant associated with backward speech.Cellular and molecular life sciences : CMLS · 2024Article
- Discovery of 42 genome-wide significant loci associated with dyslexia.Nature genetics · 2022Article
- Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia.Molecular psychiatry · 2021Article
- The Polygenic Nature and Complex Genetic Architecture of Specific Learning Disorder.Brain sciences · 2021Review
- Gene expression analysis reveals the tipping points during infant brain development for human and chimpanzee.BMC genomics · 2020Article
- Nicotinic acetylcholine receptor subunit αJournal of neurophysiology · 2019Article
- Effects of Copy Number Variations on Developmental Aspects of Children With Delayed Development.Annals of rehabilitation medicine · 2019Article
- Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia.Translational psychiatry · 2019Article
- Molecular diagnostic yield of whole-exome sequencing in Saudi autistic children with epilepsy.International journal of health sciencesArticle
Corrections and comments
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Authors and funding
10 authors at 7 institutions in 4 countries.
Funding
Abstract
backgroundReading and language skills have overlapping genetic bases, most of which are still unknown. Part of the missing heritability may be caused by copy number variants (CNVs).
methodsIn a dataset of children recruited for a history of reading disability (RD, also known as dyslexia) or attention deficit hyperactivity disorder (ADHD) and their siblings, we investigated the effects of CNVs on reading and language performance. First, we called CNVs with PennCNV using signal intensity data from Illumina OmniExpress arrays (~723,000 probes). Then, we computed the correlation between measures of CNV genomic burden and the first principal component (PC) score derived from several continuous reading and language traits, both before and after adjustment for performance IQ. Finally, we screened the genome, probe-by-probe, for association with the PC scores, through two complementary analyses: we tested a binary CNV state assigned for the location of each probe (i.e., CNV+ or CNV-), and we analyzed continuous probe intensity data using FamCNV.
resultsNo significant correlation was found between measures of CNV burden and PC scores, and no genome-wide significant associations were detected in probe-by-probe screening. Nominally significant associations were detected (p~10(-2)-10(-3)) within CNTN4 (contactin 4) and CTNNA3 (catenin alpha 3). These genes encode cell adhesion molecules with a likely role in neuronal development, and they have been previously implicated in autism and other neurodevelopmental disorders. A further, targeted assessment of candidate CNV regions revealed associations with the PC score (p~0.026-0.045) within CHRNA7 (cholinergic nicotinic receptor alpha 7), which encodes a ligand-gated ion channel and has also been implicated in neurodevelopmental conditions and language impairment. FamCNV analysis detected a region of association (p~10(-2)-10(-4)) within a frequent deletion ~6 kb downstream of ZNF737 (zinc finger protein 737, uncharacterized protein), which was also observed in the association analysis using CNV calls.
conclusionsThese data suggest that CNVs do not underlie a substantial proportion of variance in reading and language skills. Analysis of additional, larger datasets is warranted to further assess the potential effects that we found and to increase the power to detect CNV effects on reading and language.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.