Molecular-Clinical Correlations in Children and Adults With Fragile X Syndrome

High functioning fragile X males: Demonstration of an unmethylated fully expanded FMR‐1 mutation associated with protein expression

“…Mosaic males (with a full mutation plus a premutation) in this study also demonstrated on average higher I& scores than full mutation males. This is consistent with the report of Staley et al [1993] but contrasts with the reports of Rousseau et al [1991al and deVries et al [ 19921, who found no significant I& differences between mosaics and full mutation males. There is a spectrum of mosaicism and we would predict that the higher the proportion of cells with the premutation, the more FMR-1 protein would be produced.…”

Cognitive and behavioral profile of fragile X boys: Correlations to molecular data

“…We could not find cognitive differences between mosaic and full mutations, as other studies implied [Staley et al, 1993;Merenstein et al, 1996]. Still, no associations between any of the parameters analyzed and the lengths of the CGG repeat could be demonstrated.…”

Cognitive and behavioral profile of fragile X boys: Correlations to molecular data

“…Specifically, there were no associations between the methylation of the repeat and its lengths and the phenotype. We could not find cognitive differences between mosaic and full mutations, as other studies implied [Staley et al, 1993;Merenstein et al, 1996].…”