Journal article

DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome

Claudine M Kraan, Emma K Baker, Marta Arpone, Minh Bui, Ling Ling, Dinusha Gamage, Lesley Bretherton, Carolyn Rogers, Michael J Field, Tiffany L Wotton, David Francis, Matt F Hunter, Jonathan Cohen, David J Amor, David E Godler



Fragile X syndrome (FXS) is a leading single-gene cause of intellectual disability (ID) with autism features. This study analysed diagnostic and prognostic utility of the Fragile X-Related Epigenetic Element 2 DNA methylation (FREE2m) assessed by Methylation Specific-Quantitative Melt Analysis and the EpiTYPER system, in retrospectively retrieved newborn blood spots (NBS) and newly created dried blood spots (DBS) from 65 children with FXS (~2-17 years). A further 168 NBS from infants from the general population were used to establish control reference ranges, in both sexes. FREE2m analysis showed sensitivity and specificity approaching 100%. In FXS males, NBS FREE2m strongly correlated with ..

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Awarded by Financial Markets Foundation for Children (Australia) (FMFC)

Awarded by National Health and Medical Research Council (NHMRC)

Awarded by NHMRC

Awarded by Next Generation Clinical Researchers Program-Career Development Fellowship - Medical Research Future Fund

Funding Acknowledgements

This research was funded by The Victorian Government's Operational Infrastructure Support Program, Murdoch Children's Research Institute, Royal Children's Hospital Foundation, Martin and E.H. Flack Trust, Pierce Armstrong Trust, Financial Markets Foundation for Children (Australia) (FMFC; grant number: 2017-361), the National Health and Medical Research Council (NHMRC project grant numbers: 1049299 and 1103389 to D.E.G.; NHMRC Early Career fellowship project grant numbers. 1120561 to C.M.K.). D.E.G. salary was supported by the Next Generation Clinical Researchers Program-Career Development Fellowship Funded by the Medical Research Future Fund (grant number 1141334). Genetics of Learning Disability (GOLD) Service (M.J.F.). M.A. was supported by an Australian Postgraduate Award, the International Postgraduate Research Scholarships (IPRS) and the Research Training Program Fee offset scholarship funded by the Australian Government and awarded by the University of Melbourne, and in part by the Diagnosis and Development group of the Murdoch Children's Research Institute.