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

Danuta Z Loesch, Minh Bui, Eleanor Hammersley, Andrea Lauren Christman Schneider, Elsdon Storey, Paige Stimpson, Trent Burgess, David Francis, Howard Slater, Flora Tassone, Randi J Hagerman, David R Hessl

Research output: Contribution to journalArticleResearchpeer-review

29 Citations (Scopus)


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.
Original languageEnglish
Pages (from-to)173 - 178
Number of pages6
JournalClinical Genetics
Issue number2
Publication statusPublished - 2015

Cite this