Is synaesthesia an X-linked dominant trait with lethality in males?
In previous research the inheritance patterns of synaesthesia (eg experiencing colours from graphemes) has been studied and it was concluded that synaesthesia is most likely to be the outcome of a single gene passed on the X chromosome in a dominant fashion. In addition, it has been reported that the female-male ratio of synaesthetes is as high as 6:1 and the families of synaesthetes contain more female than male members. This raises the possibility that the gene may be associated with lethality in males. In this study we replicate and extend previous research by investigating the female-male ratio and inheritance patterns in a large sample of synaesthetic families (N = 85). We were able to verify the authenticity of grapheme-colour associates in at least one proband from each family using internal consistency. As before, our results show a female-male bias and are broadly consistent with an X-linked dominant mode of inheritance. However, there was no evidence of male lethality (eg synaesthetes are just as likely to give birth to sons as to daughters). Moreover, our female-male ratio of synaesthetes within families was 2:1--considerably lower than previous estimates. We speculate that men may be more reluctant to disclose synaesthesia than women (indeed, our female-male ratio based on self-referral was 3.7: 1). Finally, we discuss how the genotype may give rise to the phenotype in terms of changes in synaptogenesis or plasticity extending into childhood, to be subsequently shaped by the environment.
Department of Psychology, University College London, Gower Street, London WC1E 6BT, UK. jamie.ward@ucl.ac.uk
Jamie
J
Ward
Julia
J
Simner
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D041321:Chromosomes, Human, X / Q000235:genetics*; D003118:Color Perception / Q000235:genetics*; D005192:Family Health; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010468:Perceptual Disorders / Q000235:genetics*; D010641:Phenotype; D012307:Risk Factors; D012737:Sex Factors; D012744:Sex Ratio