Journal article
Epigenetics of fragile X syndrome and fragile X-related disorders
CM Kraan, DE Godler, DJ Amor
Developmental Medicine and Child Neurology | WILEY | Published : 2019
DOI: 10.1111/dmcn.13985
Abstract
The fragile X mental retardation 1 gene (FMR1)-related disorder fragile X syndrome (FXS) is the most common heritable form of cognitive impairment and the second most common cause of comorbid autism. FXS usually results when a premutation trinucleotide CGG repeat in the 5′ untranslated region of the FMR1 gene (CGG 55–200) expands over generations to a full mutation allele (CGG >200). This expansion is associated with silencing of the FMR1 promoter via an epigenetic mechanism that involves DNA methylation of the CGG repeat and the surrounding regulatory regions. Decrease in FMR1 transcription is associated with loss of the FMR1 protein that is needed for typical brain development. The past de..
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Awarded by Financial Markets Foundation for Children
Funding Acknowledgements
D.E.G. is named as an inventor on patent applications [PCT/AU2010/000169 and PCT/AU2014/000044] related to the technology described in this article. The authors have stated that they had no interests that could be perceived as posing a conflict or bias. This study was supported by the Victorian Government's Operational Infrastructure Support Program, with the salaries supported by NHMRC grants (no. 104299 and no. 1103389 to D.E.G. and no. 1120561 to C.M.K.; Murdoch Children's Research Institute, Royal Children's Hospital Foundation (to D.E.G.); Next Generation Clinical Researchers Program - Career Development Fellowship, funded by the Medical Research Future Fund (MRF1141334 to D.E.G.); the Financial Markets Foundation for Children (Australia). no. 2017 - 361 (to D.E.G., C.K. and D.J.A.).