1. Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion
- Author
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Loesch, DZ, Bui, MQ, Hammersley, E, Schneider, A, Storey, E, Stimpson, P, Burgess, T, Francis, D, Slater, H, Tassone, F, Hagerman, RJ, and Hessl, D
- Subjects
Biological Sciences ,Genetics ,Rare Diseases ,Neurosciences ,Fragile X Syndrome ,Brain Disorders ,Intellectual and Developmental Disabilities (IDD) ,Mental Health ,Mental health ,Good Health and Well Being ,Adolescent ,Adult ,Aged ,Aged ,80 and over ,Alleles ,Female ,Fragile X Mental Retardation Protein ,Genetic Carrier Screening ,Humans ,Intellectual Disability ,Middle Aged ,Mutation ,Trinucleotide Repeat Expansion ,CGG repeat size ,FMR1 premutation ,premutation female carriers ,psychological symptoms ,regression analysis ,Clinical Sciences ,Genetics & Heredity ,Clinical sciences - 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.
- Published
- 2015