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

EK Baker; M Arpone; SA Vera; L Bretherton; A Ure; CM Kraan; M Bui; L Ling; D Francis; MF Hunter; J Elliott; C Rogers; MJ Field; J Cohen; LS Maria; V Faundes; B Curotto; P Morales; C Trigo; I Salas; AM Alliende; DJ Amor; DE Godler

Journal article

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

EK Baker, M Arpone, SA Vera, L Bretherton, A Ure, CM Kraan, M Bui, L Ling, D Francis, MF Hunter, J Elliott, C Rogers, MJ Field, J Cohen, LS Maria, V Faundes, B Curotto, P Morales, C Trigo, I Salas Show all

Journal of Neurodevelopmental Disorders | BMC | Published : 2019

DOI: 10.1186/s11689-019-9288-7

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Abstract

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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University of Melbourne Researchers

Emma Baker Author

Claudine Kraan Author

Minh Bui Author

Jonathan Cohen Author

Related Projects (1)

CHARACTERIZATION OF A NOVEL EPIGENETIC BOUNDARY AND LONG RANGE EPIGENETIC MODIFICATIONS SPECIFIC TO FMR1 EXPANSION CARRIERS WITH BEHAVIOURAL AND COGNITIVE DISORDERS - IMPLICATIONS FOR EARLIER DIAGNOSIS AND TREATMENT

Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability and autism and is caused by a faulty switch in the gen..

Grants

Awarded by National Health and Medical Research Council

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.