Neurobehavioral characteristics of CGG amplification status in fragile X females

• Published in: American journal of medical genetics Vol. 54; no. 4; p. 378
• Main Authors: Thompson, N M, Gulley, M L, Rogeness, G A, Clayton, R J, Johnson, C, Hazelton, B, Cho, C G, Zellmer, V T
• Format: Journal Article
• Language: English
• Published: United States 15.12.1994
• Subjects: Adult; Base Sequence; DNA - analysis; Female; Fragile X Mental Retardation Protein; Fragile X Syndrome - genetics; Fragile X Syndrome - physiopathology; Fragile X Syndrome - psychology; Genetic Carrier Screening; Humans; Intelligence; Male; Memory; Mutation; Nerve Tissue Proteins - genetics; Neuropsychological Tests; Reaction Time; Reference Values; Repetitive Sequences, Nucleic Acid; RNA-Binding Proteins - genetics; Space Perception; Visual Perception
• DOI: 10.1002/ajmg.1320540418
• ISSN: 0148-7299

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.