Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion Academic Article uri icon


  • We utilized a sample of 299 adult females aged between 19 and 86 years, carrying fragile X mental retardation (FMR1) alleles with small CCG expansions ranging from 50 to 141 repeats to analyse the relationships between psychological symptoms as assessed by the Symptom Checklist-90-Revised (SCL-90-R) and the size of the CGG repeat in the FMR1 gene. There were highly significant (negative) correlations between the size of the CGG repeat and a great majority of SCL-90-R subscale scores and all the global indices, suggesting that carriers of premutations in the mid-size CGG repeat range may be at greatest risk for the development of psychiatric disorder.


  • Loesch, DZ
  • Bui, MQ
  • Hammersley, E
  • Schneider, A
  • Storey, E
  • Stimpson, P
  • Burgess, T
  • Francis, D
  • Slater, H
  • Tassone, F
  • Hagerman, RJ
  • Hessl, D

publication date

  • 2015