title: Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion.
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.
authors.affiliation: School of Psychological Science, La Trobe University, Bundoora, Victoria, Australia.
authors.forename: D Z
authors.initials: DZ
authors.lastname: Loesch
authors.forename: M Q
authors.initials: MQ
authors.lastname: Bui
authors.forename: E
authors.initials: E
authors.lastname: Hammersley
authors.forename: A
authors.initials: A
authors.lastname: Schneider
authors.forename: E
authors.initials: E
authors.lastname: Storey
authors.forename: P
authors.initials: P
authors.lastname: Stimpson
authors.forename: T
authors.initials: T
authors.lastname: Burgess
authors.forename: D
authors.initials: D
authors.lastname: Francis
authors.forename: H
authors.initials: H
authors.lastname: Slater
authors.forename: F
authors.initials: F
authors.lastname: Tassone
authors.forename: R J
authors.initials: RJ
authors.lastname: Hagerman
authors.forename: D
authors.initials: D
authors.lastname: Hessl
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000235:genetics* / Q000503:physiopathology; D006580:Genetic Carrier Screening; D006801:Humans; D008607:Intellectual Disability; D008875:Middle Aged; D009154:Mutation; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human
keywords: CGG repeat size; FMR1 premutation; premutation female carriers; psychological symptoms; regression analysis