Mental status of females with an FMR1 gene full mutation

Am J Hum Genet. 1996 May;58(5):1025-32.


The cloning of the FMR1 gene enables molecular diagnosis in patients and in carriers (male and female) of this X-linked mental retardation disorder. Unlike most X-linked disorders, a considerable proportion of the female carriers of a full mutation of the FMR1 gene is affected. In this study, the intelligence quotients (IQs) were ascertained by the Wechsler Adult Intelligence Scale in 33 adult females with a full mutation, with 28 first-degree adult female relatives (mainly sisters) without a full mutation as controls. Seventy-one percent of the females with a full mutation had IQ scores below 85. In paired analysis, no significant correlation could be detected between the IQs of the females with a full mutation and those of their first-degree female relatives, reflecting a dominant effect of the FMR1 gene full mutation in the mental development of females. Considering females with a full mutation only, we observed a significant relation between the proportion of normal FMR1 alleles on the active X chromosome and IQ. We present a model to explain this relationship.

MeSH terms

  • Adult
  • Aged
  • DNA / analysis
  • Female
  • Fragile X Syndrome / genetics
  • Fragile X Syndrome / psychology*
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Mental Status Schedule
  • Middle Aged
  • Models, Genetic
  • Mutation


  • DNA