Cognitive and molecular aspects of fragile X.
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.
Hinton
V J
VJ
Queens College, Graduate School, City University of New York, NY, USA.
Halperin
J M
JM
Dobkin
C S
CS
Ding
X H
XH
Brown
W T
WT
Miezejeski
C M
CM
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