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Molecular-clinical correlations in males with an expanded FMR1 mutation by Merenstein, Scott A.; Sobesky, William E.; Taylor, Annette K.; Riddle, Jeannette E.; Tran, Hieu X.; Hagerman, Randi J. is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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Fragile X syndrome is caused by an expansion of a CGG repeat in the FMRl gene. The CGG repeat number of the FMRl mutation and the percentage of cells with methylation of the gene were studied in 218 male patients. Physical and cognitive measurements were also performed. Patients were divided into three groups; those with full mutation and complete methylation (n = 1601, those with full mutation and partial methylation (n = 121, and those with a mosaic pattern (n = 46). Statistical comparisons were made between males with the fully methylated full mutation and those with a mosaic pattern. Males having full mutation with complete methylation had the lowest IQ scores and greatest physical involvement. These significant differences were seen only in ages after puberty. CGG repeat length did not correlate with IQ or the physical index score in any group. These findings suggest that a partial production of FMRl protein may predict milder clinical involvement in some males with fragile X syndrome.

Who reads Molecular-clinical correlations in males with an expanded FMR1 mutation?

Author

Merenstein, Scott A.; Sobesky, William E.; Taylor, Annette K.; Riddle, Jeannette E.; Tran, Hieu X.; Hagerman, Randi J.

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 0148-7299)

Published

1996

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)