Journal article

Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome

Emma K Baker, Marta Arpone, Solange Aliaga Vera, Lesley Bretherton, Alexandra Ure, Claudine M Kraan, Minh Bui, Ling Ling, David Francis, Matthew F Hunter, Justine Elliott, Carolyn Rogers, Michael J Field, Jonathan Cohen, Lorena Santa Maria, Victor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas Show all



BACKGROUND: Fragile X syndrome (FXS) is a common cause of intellectual disability and autism spectrum disorder (ASD) usually associated with a CGG expansion, termed full mutation (FM: CGG ≥ 200), increased DNA methylation of the FMR1 promoter and silencing of the gene. Mosaicism for presence of cells with either methylated FM or smaller unmethylated pre-mutation (PM: CGG 55-199) alleles in the same individual have been associated with better cognitive functioning. This study compares age- and sex-matched FM-only and PM/FM mosaic individuals on intellectual functioning, ASD features and maladaptive behaviours. METHODS: This study comprised a large international cohort of 126 male and female p..

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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

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 DEG; and no. 1120561 to CMK); Murdoch Children's Research Institute, Royal Children's Hospital Foundation (DEG); 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 DEG, CMK and DJA); MJF and CR were supported by the Genetics of Learning Disability (GOLD) Service. MA 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. SMA was funded by the CONICYT and Chile's National Commission for Scientific and Technological Research.