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

Clin Genet. 2015 Feb;87(2):173-8. doi: 10.1111/cge.12347. Epub 2014 Feb 17.

Abstract

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.

Keywords: CGG repeat size; FMR1 premutation; premutation female carriers; psychological symptoms; regression analysis.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Alleles
  • Female
  • Fragile X Mental Retardation Protein / genetics*
  • Fragile X Syndrome / genetics*
  • Fragile X Syndrome / physiopathology
  • Genetic Carrier Screening
  • Humans
  • Intellectual Disability
  • Middle Aged
  • Mutation
  • Trinucleotide Repeat Expansion / genetics*

Substances

  • FMR1 protein, human
  • Fragile X Mental Retardation Protein