title: Neurobehavioral characteristics of CGG amplification status in fragile X females.
abstract: Neurobehavioral correlates of CGG amplification were studied in 17 nonretarded adult female carriers of fragile X syndrome. The results revealed a significant relationship between IQ and the number of CGG repeats in the 5' untranslated region of the FMR1 gene. Women with a full mutation (> 200 CGG repeats) scored below average in IQ, visual-spatial perception, visual-spatial organization, and executive function. There were no differences in fine motor dexterity or memory as a function of CGG amplification status. A history of major depressive disorder was identified in 71% of the sample, but incidence of depression was not associated with the degree of CGG amplification. Schizotypal features were noted in 18%. No intellectual or neuropsychological deficit was found in women with a premutation (< 200 CGG repeats). Decrements in IQ, visual-spatial perception, and executive function appear to arise as a consequence of the CGG amplification.
authors.affiliation: Department of Psychiatry, University of Texas Health Science Center-San Antonio, USA.
authors.forename: N M
authors.initials: NM
authors.lastname: Thompson
authors.forename: M L
authors.initials: ML
authors.lastname: Gulley
authors.forename: G A
authors.initials: GA
authors.lastname: Rogeness
authors.forename: R J
authors.initials: RJ
authors.lastname: Clayton
authors.forename: C
authors.initials: C
authors.lastname: Johnson
authors.forename: B
authors.initials: B
authors.lastname: Hazelton
authors.forename: C G
authors.initials: CG
authors.lastname: Cho
authors.forename: V T
authors.initials: VT
authors.lastname: Zellmer
mesh_terms: D000328:Adult; D001483:Base Sequence; D004247:DNA / Q000032:analysis; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000235:genetics* / Q000503:physiopathology* / Q000523:psychology; D006580:Genetic Carrier Screening; D006801:Humans; D007360:Intelligence; D008297:Male; D008568:Memory; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D009483:Neuropsychological Tests; D016601:RNA-Binding Proteins / Q000235:genetics; D011930:Reaction Time; D012016:Reference Values; D012091:Repetitive Sequences, Nucleic Acid; D013028:Space Perception; D014796:Visual Perception
chemical_list: D004247:DNA; D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human