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Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion |
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| Authors: | D. Z. Loesch M. Q. Bui E. Hammersley A. Schneider E. Storey P. Stimpson T. Burgess D. Francis H. Slater F. Tassone R. J. Hagerman D. Hessl |
| Affiliation: | 1. School of Psychological Science, La Trobe University, Bundoora, Victoria, Australia;2. Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, Parkville, Victoria, Australia;3. Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Medical Center, Sacramento, CA, USA;4. Department of Medicine (Neuroscience), Monash University, Melbourne, Victoria, Australia;5. VCGS Cytogenetics Laboratory, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia;6. Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, Sacramento, CA, USA;7. Department of Pediatrics, School of Medicine, University of California, Davis, Sacramento, CA, USA;8. Department of Psychiatry and Behavioral Sciences, School of Medicine, University of California, Davis, Sacramento, CA, USA |
| 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 |