Journal article

FMR1 mRNA from full mutation alleles is associated with ABC-C-FX scores in males with fragile X syndrome

Emma K Baker, Marta Arpone, Claudine Kraan, Bui Minh, Carolyn Rogers, Michael Field, Lesley Bretherton, Ling Ling, Alexandra Ure, Jonathan Cohen, Matthew F Hunter, Lorena Santa Maria, Victor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, Angelica Alliende, David J Amor, David E Godler



Fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with ≥ 200 CGG repeats, and a decrease in FMR1 mRNA and its protein. However, incomplete silencing from FM alleles has been associated with more severe autism features in FXS males. This study compared scores on the Aberrant Behavior Checklist-Community-FXS version (ABC-CFX) in 62 males affected with FXS (3 to 32 years) stratified based on presence or absence of mosaicism and/or FMR1 mRNA silencing. Associations between ABC-CFX subscales and FMR1 mRNA levels, assessed using real-time PCR relative standard curve method, were also examined. The FXS group mosaic for premutation (PM: 55-199 CGGs) and FM alleles ..

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Awarded by NHMRC

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

Awarded by Financial Markets Foundation for Children (Australia)

Funding Acknowledgements

The authors would like to thank all the study participants and their families for being involved in the study. We would also like to thank Justine Elliott and Chriselle Hickerton for their assistance with recruitment and Solange Aliaga for confirmatory testing of FXS participants. We would also like to thank the following individuals for their assistance with the administration and coding of IQ and/or ADOS assessments: Cherie Green, Nusrat Ahmed, Annabelle May Marsh, Jaqueline Maya, and Pura Ballester-Navarro. This study was supported by the Victorian Government's Operational Infrastructure Support Program, with the salaries supported by NHMRC project grants (no. 1049299 and no. 1103389 to D.E.G; and no. 1103389 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.); M.J.F. and C.R. were supported by the Genetics of Learning Disability (GOLD) Service. 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.