Synaesthesia: discordant male monozygotic twins

Neurocase. 2005 Oct;11(5):363-70. doi: 10.1080/13554790500205413.

Abstract

Grapheme-color synaesthesia, a condition in which achromatic graphemes elicit vivid experiences of color is believed to be a genetically determined trait. We describe a study of 10-year-old twin brothers who are physically identical in appearance but who have considerably different conscious experiences. A phenotypic analysis that measured the consistency of grapheme-color pairings over test-retest confirmed that one twin has grapheme-color synaesthesia and the other twin does not. A genotypic analysis using sixteen microsatellite loci confirmed that the twins are monozygotic. These findings are problematic for previous suggestions that synaesthesia is an X-linked dominant trait. At the very least, the findings show that the penetrance of the genotype for synaesthesia is incomplete and that any view suggesting that synaesthesia is simply an X-linked dominant trait is therefore also incomplete and possibly even incorrect. The findings also negate a previous suggestion, based on a study of female monozygotic twins, that discordance of synaesthesia in identical twins is due to X-inactivation. In general, the findings raise serious questions regarding whether it is possible at this time to establish the genetic contribution to synaesthesia.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Twin Study

MeSH terms

  • Child
  • Color Perception / genetics*
  • Diseases in Twins
  • Genotype
  • Hallucinations / genetics*
  • Humans
  • Male
  • Microsatellite Repeats / genetics*
  • Perceptual Disorders / genetics*
  • Perceptual Disorders / physiopathology
  • Phenotype
  • Photic Stimulation / methods
  • Twins, Monozygotic