ArticleProceedings of the National Academy of Sciences of the United States of America2003
A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 144 papers, 2 of them syntheses that pooled it.
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Who cites it
144 citing papers in PubMed, 2 syntheses or guidelines pooled it, 377 citations in OpenAlex.
- Hypothesis-driven genome-wide association studies provide novel insights into genetics of reading disabilities.Translational psychiatry · 2022Pooled it
- A family-based association analysis and meta-analysis of the reading disabilities candidate gene DYX1C1.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2013Pooled it
- An assessment of gene-by-gene interactions as a tool to unfold missing heritability in dyslexia.Human genetics · 2015Trial
- Support for EKN1 as the susceptibility locus for dyslexia on 15q21.Molecular psychiatry · 2004Trial
- Interstitial cystitis: a phenotype and rare variant exome sequencing study.EBioMedicine · 2026Article
- Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.Human genetics · 2025Article
- Spatiotemporal expression pattern of dyslexia susceptibility 1 candidate 1 (DYX1C1) during rat cerebral cortex development.Pediatric research · 2025Article
- Targeted analysis of dyslexia-associated regions on chromosomes 6, 12 and 15 in large multigenerational cohorts.PloS one · 2025Article
- Investigation of Association Between Expression of DYX1C1, KIAA0319, and ROBO1 Genes and Specific Learning Disorder in Children and Adolescents.Journal of molecular neuroscience : MN · 2024Article
- Review
- Telerehabilitation of Developmental Dyslexia: Critical Considerations on Intervention Methods and Their Effectiveness.Brain sciences · 2024Review
- Developmental dyslexia genes are selectively targeted by diverse environmental pollutants.BMC psychiatry · 2024Article
- Developmental dyslexia susceptibility genes DNAAF4, DCDC2, and NRSN1 are associated with brain function in fluently reading adolescents and young adults.Cerebral cortex (New York, N.Y. : 1991) · 2024Article
- Identification of a novel splice site mutation in the DNAAF4 gene of a Chinese patient with primary ciliary dyskinesia.Asian journal of andrology · 2023Article
- The Moderating Role of theBehavioral sciences (Basel, Switzerland) · 2023Article
- A novel homozygous splice variant inActa biochimica et biophysica Sinica · 2023Article
- Specific Learning Disorders: Variation Analysis of 15 Candidate Genes in 9 Multiplex Families.Medicina (Kaunas, Lithuania) · 2023Article
- Dyslexia-Related Hearing Loss Occurs Mainly through the Abnormal Spontaneous Electrical Activity of Spiral Ganglion Neurons.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2023Article
- Genetic and protein interaction studies between the ciliary dyslexia candidate genes DYX1C1 and DCDC2.BMC molecular and cell biology · 2023Article
- A genome-wide association study identifies a new variant associated with word reading fluency in Chinese children.Genes, brain, and behavior · 2023Article
84 more citing papers are in PubMed but not listed here.
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Authors and funding
11 authors at 3 institutions in 3 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Approximately 3-10% of people have specific difficulties in reading, despite adequate intelligence, education, and social environment. We report here the characterization of a gene, DYX1C1 near the DYX1 locus in chromosome 15q21, that is disrupted by a translocation t(2;15)(q11;q21) segregating coincidentally with dyslexia. Two sequence changes in DYX1C1, one involving the translation initiation sequence and an Elk-1 transcription factor binding site (-3G --> A) and a codon (1249G --> T), introducing a premature stop codon and truncating the predicted protein by 4 aa, associate alone and in combination with dyslexia. DYX1C1 encodes a 420-aa protein with three tetratricopeptide repeat (TPR) domains, thought to be protein interaction modules, but otherwise with no homology to known proteins. The mouse Dyx1c1 protein is 78% identical to the human protein, and the nonhuman primates differ at 0.5-1.4% of residues. DYX1C1 is expressed in several tissues, including the brain, and the protein resides in the nucleus. In human brain, DYX1C1 protein localizes to a fraction of cortical neurons and white matter glial cells. We conclude that DYX1C1 should be regarded as a candidate gene for developmental dyslexia. Detailed study of its function may open a path to understanding a complex process of development and maturation of the human brain.
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