ArticleEBioMedicine2018
Ancestral Variations of the PCDHG Gene Cluster Predispose to Dyslexia in a Multiplex Family.
Article in EBioMedicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 13 citations in OpenAlex.
- Diversity of clustered protocadherin-α genes in neuronal identity and its role in short-term specific associative memory formation.Scientific reports · 2025Article
- Innovative Family-Based Genetically Informed Series of Analyses of Whole-Exome Data Supports Likely Inheritance for Grammar in Children with Specific Language Impairment.Children (Basel, Switzerland) · 2023Article
- Associations of ARHGAP26 Polymorphisms with Alzheimer's Disease and Cardiovascular Disease.Journal of molecular neuroscience : MN · 2022Article
- The role of GTPase-activating protein ARHGAP26 in human cancers.Molecular and cellular biochemistry · 2022Review
- Mouse models for the study of clustered protocadherins.Current topics in developmental biology · 2022Article
- The Polygenic Nature and Complex Genetic Architecture of Specific Learning Disorder.Brain sciences · 2021Review
- The role of clustered protocadherins in neurodevelopment and neuropsychiatric diseases.Current opinion in genetics & development · 2020Review
- Clustered Protocadherins Emerge as Novel Susceptibility Loci for Mental Disorders.Frontiers in neuroscience · 2020Review
- Article
- DSCAM promotes self-avoidance in the developing mouse retina by masking the functions of cadherin superfamily members.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
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Authors and funding
13 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dyslexia is a heritable neurodevelopmental disorder characterized by difficulties in reading and writing. In this study, we describe the identification of a set of 17 polymorphisms located across 1.9Mb region on chromosome 5q31.3, encompassing genes of the PCDHG cluster, TAF7, PCDH1 and ARHGAP26, dominantly inherited with dyslexia in a multi-incident family. Strikingly, the non-risk form of seven variations of the PCDHG cluster, are preponderant in the human lineage, while risk alleles are ancestral and conserved across Neanderthals to non-human primates. Four of these seven ancestral variations (c.460A>C [p.Ile154Leu], c.541G>A [p.Ala181Thr], c.2036G>C [p.Arg679Pro] and c.2059A>G [p.Lys687Glu]) result in amino acid alterations. p.Ile154Leu and p.Ala181Thr are present at EC2: EC3 interacting interface of γA3-PCDH and γA4-PCDH respectively might affect trans-homophilic interaction and hence neuronal connectivity. p.Arg679Pro and p.Lys687Glu are present within the linker region connecting trans-membrane to extracellular domain. Sequence analysis indicated the importance of p.Ile154, p.Arg679 and p.Lys687 in maintaining class specificity. Thus the observed association of PCDHG genes encoding neural adhesion proteins reinforces the hypothesis of aberrant neuronal connectivity in the pathophysiology of dyslexia. Additionally, the striking conservation of the identified variants indicates a role of PCDHG in the evolution of highly specialized cognitive skills critical to reading.
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