Journal article
Fragile X mental retardation 1 (FMR1) intron 1 methylation in blood predicts verbal cognitive impairment in female carriers of expanded FMR1 alleles: Evidence from a pilot study
DE Godler, HR Slater, QM Bui, E Storey, MY Ono, F Gehling, Y Inaba, D Francis, JL Hopper, G Kinsella, DJ Amor, RJ Hagerman, DZ Loesch
Clinical Chemistry | Published : 2012
Abstract
BACKGROUND: Cognitive status in females with mutations in the FMR1 (fragile Xmental retardation 1) gene is highly variable. A biomarker would be of value for predicting which individuals were liable to develop cognitive impairment and could benefit from early intervention. A detailed analysis of CpG sites bridging exon 1 and intron 1 of FMR1, known as fragile X-related epigenetic element 2 (FREE2), suggests that a simple blood test could identify these individuals. METHODS: Study participants included 74 control females (<40 CGG repeats), 62 premutation (PM) females (55-200 CGG repeats), and 18 full-mutation (FM) females assessed with Wechsler intelligence quotient (IQ) tests. We used MALDI-..
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Awarded by Eunice Kennedy Shriver National Institute of Child Health and Human Development
Funding Acknowledgements
Research Funding: Victorian Government's Operational Infrastructure Support Program; D. E. Godler, E.W. A1 Thrasher Award and National Health and Medical Research Council of Australia development grant (no. 1017263); H. R. Slater, National Health and Medical Research Council of Australia development grant (no. 1017263) and E.W. A1 Thrasher Award; E. Storey, National Health and Medical Research Council of Australia project grant (no. 330400); R.J. Hagerman, National Institute of Child Health and Human Development grant (no. HD36071) and E.W. A1 Thrasher Award; D.Z. Loesch, National Institute of Child Health and Human Development grant (no. HD36071), National Health and Medical Research Council of Australia project grant (no. 330400), and E. W. Al Thrasher Award. Expert Testimony: None declared.