title: Cognitive and molecular aspects of fragile X.
abstract: The relationships among parental origin of the fragile X gene, gene structure, and specific cognitive deficits were evaluated in nonretarded adult female fragile X carriers to determine whether: (1) origin influences gene structure and cognitive function, (2) mild cognitive impairments are associated with altered gene structure, and (3) specific cognitive domains are affected. Results indicated that 56% of women with maternally inherited, but none with paternally inherited, fragile X showed large genomic structural alterations and selective deficits on measures of visual attention. Thus, molecular status of the fragile X gene appears to be linked to parental origin and may selectively affect specific cognitive skills.
authors.affiliation: Queens College, Graduate School, City University of New York, NY, USA.
authors.forename: V J
authors.initials: VJ
authors.lastname: Hinton
authors.forename: J M
authors.initials: JM
authors.lastname: Halperin
authors.forename: C S
authors.initials: CS
authors.lastname: Dobkin
authors.forename: X H
authors.initials: XH
authors.lastname: Ding
authors.forename: W T
authors.initials: WT
authors.lastname: Brown
authors.forename: C M
authors.initials: CM
authors.lastname: Miezejeski
mesh_terms: D000328:Adult; D001288:Attention / Q000502:physiology; D003072:Cognition Disorders / Q000235:genetics* / Q000523:psychology; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics* / Q000523:psychology; D006580:Genetic Carrier Screening; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000523:psychology; D008297:Male; D011939:Mental Recall / Q000502:physiology; D008875:Middle Aged; D008957:Models, Genetic; D009483:Neuropsychological Tests; D010375:Pedigree; D010641:Phenotype; D011597:Psychomotor Performance / Q000502:physiology