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The genetics of synaesthesia
 Julian Asher, Simon Baron-Cohen
The tendency of synaesthesia to occur in families was first noted by Francis Galton in 1883. Reports from people with synaesthesia indicate that 36-45% of synaesthetes have at least one first degree relative with synaesthesia. This most likely represents an underestimate, as a recent study involving systematic screening of the first-degree relatives of people with synaesthesia revealed ‘non-synaesthete’ relatives to be synaesthetes with a different form of synaesthesia. Familiality studies and pedigree analyses indicate a strong genetic component.
The study of the genetics of synaesthesia is in its infancy, and we are in the first stages of unravelling the genetic substrates underlying the disorder. Although there is strong evidence that synaesthesia has a genetic component, we do not yet know which genes cause synaesthesia or how they contribute to the development of the condition.
In collaboration with Professor Anthony Monaco’s group at the Wellcome Trust Centre for Human Genetics in Oxford, we recently published the first genome-wide study of the genetics of auditory-visual synaesthesia in the American Journal of Human Genetics. Our groundbreaking work identified four genetic regions linked with susceptibility to synaesthesia.
While there is no evidence that synaesthetes are more likely to have autism-spectrum disorders than people in the general population, it is notable that the region with the most significant linkage is to a region which has been previously linked to autism. This of particular interest as sensory abnormalities are common in autism spectrum conditions and the extreme memory and recall capabilities of at least one numerical savant appear to be driven by his synaesthesia. This discovery spurred the development of our work on
synaesthsia and autism. The other regions identified in the genome scan include genes linked to memory and learning, dyslexia, and epilepsy.
Working in collaboration with other groups in the field, we aim to identify and characterise genes that may make people more susceptible to developing synaesthesia and to further clarify the role of genes in human cognition and perception.
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References:
416
J. Asher, J. Lamb, D. Brocklebank, J. Cazier, E. Maestrini, L. Addis, M. Sen, S. Baron-Cohen, A. Monaco, (2009)
A Whole-Genome Scan and Fine-Mapping Linkage Study of Auditory-Visual Synesthesia Reveals Evidence of Linkage to Chromosomes 2q24, 5q33, 6p12, and 12p12
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326
J. Asher, M. R. F. Aitken, N. Farooqi, S. Kurmani and S. Baron-Cohen, (2006)
Diagnosing and phenotyping visual synaesthesia - a preliminary evaluation of the revised test of genuineness (TOG-R)
Cortex :137-146
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