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Title: Molecular-intelligence correlations in young fragile X males with a mild CGG repeat expansion in the FMR1 gene
Authors: Steyaert, Jean ×
Borghgraef, M
Legius, Eric
Fryns, Jean-Pierre #
Issue Date: Dec-1996
Publisher: Wiley-Liss
Series Title: American Journal of Medical Genetics vol:64 issue:2 pages:274-7
Abstract: Several mechanisms can explain the occurrence of full-mutation fragile X males with an IQ level above -2 SD below mean, also called "high-functioning fragile X males." Incomplete methylation of the CpG island at the 5' end of the FMR1 gene is one of these mechanisms. The present study describes the physical and behavior phenotypes in 7 fragile X boys with CGG repeat insertions in the FMR1 gene between 600-2,400 base pairs. The degree of methylation at the FMR1-associated CpG island ranges in peripheral blood lymphocytes from 0-95%. Subjects with a low degree of methylation at this site have mild or absent physical characteristics of the fragile X syndrome, while subjects with a high degree of methylation at this site have more severe physical characteristics. In this range of CGG repeat insertion (600-2,400 base pairs), the degree of methylation at the FMR1-associated CpG island is a good predictor of intelligence, while CGG repeat insertion length is not.
ISSN: 0148-7299
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Research Group Psychiatry
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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