Journal article
Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features
EK Baker, M Arpone, SM Aliaga, L Bretherton, CM Kraan, M Bui, HR Slater, L Ling, D Francis, MF Hunter, J Elliott, C Rogers, M Field, J Cohen, K Cornish, L Santa Maria, V Faundes, B Curotto, P Morales, C Trigo Show all
Molecular Autism | BMC | Published : 2019
Abstract
Background: Fragile X syndrome (FXS) is a common monogenic cause of intellectual disability with autism features. While it is caused by loss of the FMR1 product (FMRP), mosaicism for active and inactive FMR1 alleles, including alleles termed premutation (PM: 55-199 CGGs), is not uncommon. Importantly, both PM and active full mutation (FM: ≥ 200 CGGs) alleles often express elevated levels of mRNA that are thought to be toxic. This study determined if complete FMR1 mRNA silencing from FM alleles and/or levels of FMR1 mRNA (if present) in blood are associated with intellectual functioning and autism features in FXS. Methods: The study cohort included 98 participants (70.4% male) with FXS (FM-on..
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Awarded by Financial Markets Foundation for Children
Funding Acknowledgements
This study was supported by the Victorian Government's Operational Infrastructure Support Program, with the salaries supported by NHMRC project 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 (D.E.G.); Next Generation Clinical Researchers Program - Career Development Fellowship, funded by the Medical Research Future Fund (MRF1141334 to D.E.G.); and the Financial Markets Foundation for Children (Australia) (no. 2017-361 to D.E.G. C.M.K. and D.J.A.); the Genetics of Learning Disability (GOLD) Service (M.J.F.). M.A. was supported by 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. S.A.V. was funded by the CONICYT and Chile's National Commission for Scientific and Technological Research.