ArticleHuman genetics2015
Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family.
Article in Human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- A systematic review and meta-analysis of imaging genetics studies of specific reading disorder.Cognitive neuropsychology · 2021Pooled it
- Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.Human genetics · 2025Article
- Targeted analysis of dyslexia-associated regions on chromosomes 6, 12 and 15 in large multigenerational cohorts.PloS one · 2025Article
- Subacute exposure to apigenin induces changes in protein synthesis in the liver of Swiss mice.Frontiers in physiology · 2025Article
- Human-specific insights into candidate genes and boosted discoveries of novel loci illuminate roles of neuroglia in reading disorders.Genes, brain, and behavior · 2024Article
- The Rogdi knockout mouse is a model for Kohlschütter-Tönz syndrome.Scientific reports · 2024Article
- Contributions of common genetic variants to specific languages and to when a language is learned.Scientific reports · 2022Article
- Whole-genome sequencing identifies functional noncoding variation in SEMA3C that cosegregates with dyslexia in a multigenerational family.Human genetics · 2021Article
- The Polygenic Nature and Complex Genetic Architecture of Specific Learning Disorder.Brain sciences · 2021Review
- Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report.BMC medical genetics · 2020Article
- Robust Candidates for Language Development and Evolution Are Significantly Dysregulated in the Blood of People With Williams Syndrome.Frontiers in neuroscience · 2019Article
- The neuronal migration hypothesis of dyslexia: A critical evaluation 30 years on.The European journal of neuroscience · 2018Review
- Ancestral Variations of the PCDHG Gene Cluster Predispose to Dyslexia in a Multiplex Family.EBioMedicine · 2018Article
- Identification of NCAN as a candidate gene for developmental dyslexia.Scientific reports · 2017Article
- GeMSTONE: orchestrated prioritization of human germline mutations in the cloud.Nucleic acids research · 2017Article
- Neurogenetics of developmental dyslexia: from genes to behavior through brain neuroimaging and cognitive and sensorial mechanisms.Translational psychiatry · 2017Review
- [Research advances in susceptible genes for developmental dyslexia in children].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2016Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Developmental dyslexia is the most common learning disorder in children. Problems in reading and writing are likely due to a complex interaction of genetic and environmental factors, resulting in reduced power of studies of the genetic factors underlying developmental dyslexia. Our approach in the current study was to perform exome sequencing of affected and unaffected individuals within an extended pedigree with a familial form of developmental dyslexia. We identified a two-base mutation, causing a p.R229L amino acid substitution in the centrosomal protein 63 kDa (CEP63), co-segregating with developmental dyslexia in this pedigree. This mutation is novel, and predicted to be highly damaging for the function of the protein. 3D modelling suggested a distinct conformational change caused by the mutation. CEP63 is localised to the centrosome in eukaryotic cells and is required for maintaining normal centriole duplication and control of cell cycle progression. We found that a common polymorphism in the CEP63 gene had a significant association with brain white matter volume. The brain regions were partly overlapping with the previously reported region influenced by polymorphisms in the dyslexia susceptibility genes DYX1C1 and KIAA0319. We hypothesise that CEP63 is particularly important for brain development and might control the proliferation and migration of cells when those two events need to be highly coordinated.
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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.