ArticleProceedings of the National Academy of Sciences of the United States of America2018
Rare variants in axonogenesis genes connect three families with sound-color synesthesia.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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22 citing papers in PubMed, 65 citations in OpenAlex.
- Transient acquisition process of grapheme-color synesthesia on novel graphemes.Frontiers in psychology · 2026Article
- Genetic and environmental contributions to the link between synaesthesia and neurodevelopmental and psychiatric features: a twin study.Translational psychiatry · 2025Article
- Brain circuits in autonomous sensory meridian response and related phenomena.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2024Review
- Paternal aging impacts expression and epigenetic markers as early as the first embryonic tissue lineage differentiation.Human genomics · 2024Article
- Investigation of the relationship between neuroplasticity and grapheme-color synesthesia.Frontiers in neuroscience · 2024Article
- Quantitative mass spectrometry analysis of the injured proximal and distal human digital nerve ends.Frontiers in molecular neuroscience · 2024Article
- Genetic and environmental architecture of synaesthesia and its association with the autism spectrum-a twin study.Proceedings. Biological sciences · 2023Article
- A single case neuroimaging study of tickertape synesthesia.Scientific reports · 2023Article
- Review
- A case of co-occuring synesthesia, autism, prodigious talent and strong structural brain connectivity.BMC psychiatry · 2020Article
- Assorted dysfunctions of endosomal alkali cation/proton exchangerThe Journal of biological chemistry · 2020Article
- Reduced perceptual narrowing in synesthesia.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Learning in colour: children with grapheme-colour synaesthesia show cognitive benefits in vocabulary and self-evaluated reading.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2019Article
- Bridging senses: novel insights from synaesthesia.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2019Article
- Investigating genetic links between grapheme-colour synaesthesia and neuropsychiatric traits.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2019Article
- Synaesthetic colour associations for Japanese Kanji characters: from the perspective of grapheme learning.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2019Article
- Stochastic resonance model of synaesthesia.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2019Review
- Echoes from the past: synaesthetic colour associations reflect childhood gender stereotypes.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2019Article
- Synaesthesia: a distinct entity that is an emergent feature of adaptive neurocognitive differences.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2019Article
- Mechanisms of Neuronal Alternative Splicing and Strategies for Therapeutic Interventions.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2019Review
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Authors and funding
6 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Synesthesia is a rare nonpathological phenomenon where stimulation of one sense automatically provokes a secondary perception in another. Hypothesized to result from differences in cortical wiring during development, synesthetes show atypical structural and functional neural connectivity, but the underlying molecular mechanisms are unknown. The trait also appears to be more common among people with autism spectrum disorder and savant abilities. Previous linkage studies searching for shared loci of large effect size across multiple families have had limited success. To address the critical lack of candidate genes, we applied whole-exome sequencing to three families with sound-color (auditory-visual) synesthesia affecting multiple relatives across three or more generations. We identified rare genetic variants that fully cosegregate with synesthesia in each family, uncovering 37 genes of interest. Consistent with reports indicating genetic heterogeneity, no variants were shared across families. Gene ontology analyses highlighted six genes-
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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.