ArticleAmerican journal of human genetics2013
Alleles of a polymorphic ETV6 binding site in DCDC2 confer risk of reading and language impairment.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 38 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
38 citing papers in PubMed, 1 synthesis or guideline pooled it, 67 citations in OpenAlex.
- Pooled it
- An assessment of gene-by-gene interactions as a tool to unfold missing heritability in dyslexia.Human genetics · 2015Trial
- Associations between READ1 deletion, reading proficiency, and white matter network organisation in children with and without developmental dyslexia.Brain structure & function · 2026Article
- Targeted analysis of dyslexia-associated regions on chromosomes 6, 12 and 15 in large multigenerational cohorts.PloS one · 2025Article
- Alterations in neural activation in the ventral frontoparietal network during complex magnocellular stimuli in developmental dyslexia associated with READ1 deletion.Behavioral and brain functions : BBF · 2024Article
- Human-specific insights into candidate genes and boosted discoveries of novel loci illuminate roles of neuroglia in reading disorders.Genes, brain, and behavior · 2024Article
- Phonological awareness mediates the relationship between DCDC2 and reading performance with home environment.NPJ science of learning · 2024Article
- Orthographic Depth May Influence the Degree of Severity of Maze Learning Performance in Children at Risk for Reading Disorder.Developmental neuroscience · 2022Article
- The Polygenic Nature and Complex Genetic Architecture of Specific Learning Disorder.Brain sciences · 2021Review
- Identification of Phonology-Related Genes and Functional Characterization of Broca's and Wernicke's Regions in Language and Learning Disorders.Frontiers in neuroscience · 2021Article
- Identifying Dyslexia: Link between Maze Learning and Dyslexia Susceptibility Gene, DCDC2, in Young Children.Developmental neuroscience · 2021Article
- Effect of READ1 on latent profiles of reading disorder and comorbid attention and language impairment subtypes.Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence · 2020Article
- Neuroimaging genetics studies of specific reading disability and developmental language disorder: A review.Language and linguistics compass · 2019Article
- Worldwide distribution of theProceedings of the National Academy of Sciences of the United States of America · 2018Article
- Genetic association study of dyslexia and ADHD candidate genes in a Spanish cohort: Implications of comorbid samples.PloS one · 2018Article
- A molecular-genetic and imaging-genetic approach to specific comprehension difficulties in children.NPJ science of learning · 2018Article
- The role of READ1 and KIAA0319 genetic variations in developmental dyslexia: testing main and interactive effects.Journal of human genetics · 2017Article
- Enrichment of putatively damaging rare variants in the DYX2 locus and the reading-related genes CCDC136 and FLNC.Human genetics · 2017Article
- The DCDC2 deletion is not a risk factor for dyslexia.Translational psychiatry · 2017Article
- Dyslexia risk gene relates to representation of sound in the auditory brainstem.Developmental cognitive neuroscience · 2017Article
Corrections and comments
- Erratum issued
Authors and funding
8 authors at 3 institutions in 3 countries.
Funding
Abstract
Reading disability (RD) and language impairment (LI) are common learning disabilities that make acquisition and utilization of reading and verbal language skills, respectively, difficult for affected individuals. Both disorders have a substantial genetic component with complex inheritance. Despite decades of study, reading and language, like many other complex traits, consistently evade identification of causative and functional variants. We previously identified a putative functional risk variant, named BV677278 for its GenBank accession number, for RD in DCDC2. This variant consists of an intronic microdeletion and a highly polymorphic short tandem repeat (STR) within its breakpoints. We have also shown this STR to bind to an unknown nuclear protein with high specificity. Here, we replicate BV677278's association with RD, expand its association to LI, identify the BV677278-binding protein as the transcription factor ETV6, and provide compelling genetic evidence that BV677278 is a regulatory element that influences reading and language skills. We also provide evidence that BV677278 interacts nonadditively with KIAA0319, an RD-associated gene, to adversely affect several reading and cognitive phenotypes. On the basis of these data, we propose a new name for BV677278: "READ1" or "regulatory element associated with dyslexia 1."
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Registered trials
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.