ArticleNeurology2015
Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women.
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Article in Neurology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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4.2field-weighted citation impact, top 6% of its field
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24 citing papers in PubMed, 31 citations in OpenAlex.
- Cerebellar GABA and executive function among adult female carriers of the fragile X messenger ribonucleoprotein 1 premutation: a pilot study to examine neural underpinnings of the clinical phenotype.Neurobiology of disease · 2026Article
- Intergenerational associations in inhibitory control inFrontiers in psychiatry · 2026Article
- Parental report-based assessment of sleep problems and mental health in an unreferred cohort of children with a fragile X premutation.Frontiers in molecular neuroscience · 2026Article
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- Defining the 3'Epigenetic Boundary of theInternational journal of molecular sciences · 2023Article
- Social and physical predictors of mental health impact in adult women who have anGenetics in medicine open · 2023Article
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- Verbal inhibition declines among older women with high FMR1 premutation expansions: A prospective study.Brain and cognition · 2022Article
- Molecular Pathogenesis and Peripheral Monitoring of Adult Fragile X-Associated Syndromes.International journal of molecular sciences · 2021Review
- DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome.International journal of molecular sciences · 2020Article
- Inhibition deficits are modulated by age and CGG repeat length in carriers of the FMR1 premutation allele who are mothers of children with fragile X syndrome.Brain and cognition · 2020Article
- Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for Fragile X Testing.Scientific reports · 2019Article
- Article
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- Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features.Molecular autism · 2019Article
- Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X.Scientific reports · 2018Article
- The effects of optimism, religion, and hope on mood and anxiety disorders in women with the FMR1 premutation.Journal of intellectual disability research : JIDR · 2017Article
- Clinical and molecular correlates in fragile X premutation females.eNeurologicalSci · 2017Article
- Reduced vagal tone in women with theJournal of neurodevelopmental disorders · 2017Article
- Brain structure and intragenic DNA methylation are correlated, and predict executive dysfunction in fragile X premutation females.Translational psychiatry · 2016Article
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Authors and funding
14 authors at 2 institutions in 1 country.
Kim M CornishFrom the School of Psychological Sciences, Faculty of Medicine, Nursing and Health Sciences (K.M.C., C.M.K., M.A.B.), and the Centre for Developmental Disability Health Victoria (J.C.), Monash University, Clayton; the Centre for Epidemiology and Biostatistics (Q.M.B.), Melbourne School of Population and Global Health, University of Melbourne; Genetics Education and Health Research (S.A.M., A.D.A., E.T.), the Cytomolecular Diagnostic Research Laboratory (H.R.S., Y.I., X.L., D.E.G.) and Victorian Clinical Genetics Services (A.D.A.), Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Melbourne; the Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences (S.A.M., A.D.A., E.T.), The University of Melbourne, Parkville; the Department of Developmental Disability Neuropsychiatry and Centre for Healthy Brain Ageing (J.N.T.), UNSW Australia, Sydney; Olga Tennison Autism Research Centre (D.R.H.), School of Psychological Science, La Trobe, Bundoora; and Fragile X Alliance Inc. (Clinic) (J.C.), North Caufield, Australia. kim.cornish@monash.edu.
Claudine M KraanFrom the School of Psychological Sciences, Faculty of Medicine, Nursing and Health Sciences (K.M.C., C.M.K., M.A.B.), and the Centre for Developmental Disability Health Victoria (J.C.), Monash University, Clayton; the Centre for Epidemiology and Biostatistics (Q.M.B.), Melbourne School of Population and Global Health, University of Melbourne; Genetics Education and Health Research (S.A.M., A.D.A., E.T.), the Cytomolecular Diagnostic Research Laboratory (H.R.S., Y.I., X.L., D.E.G.) and Victorian Clinical Genetics Services (A.D.A.), Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Melbourne; the Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences (S.A.M., A.D.A., E.T.), The University of Melbourne, Parkville; the Department of Developmental Disability Neuropsychiatry and Centre for Healthy Brain Ageing (J.N.T.), UNSW Australia, Sydney; Olga Tennison Autism Research Centre (D.R.H.), School of Psychological Science, La Trobe, Bundoora; and Fragile X Alliance Inc. (Clinic) (J.C.), North Caufield, Australia.
Quang Minh BuiFrom the School of Psychological Sciences, Faculty of Medicine, Nursing and Health Sciences (K.M.C., C.M.K., M.A.B.), and the Centre for Developmental Disability Health Victoria (J.C.), Monash University, Clayton; the Centre for Epidemiology and Biostatistics (Q.M.B.), Melbourne School of Population and Global Health, University of Melbourne; Genetics Education and Health Research (S.A.M., A.D.A., E.T.), the Cytomolecular Diagnostic Research Laboratory (H.R.S., Y.I., X.L., D.E.G.) and Victorian Clinical Genetics Services (A.D.A.), Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Melbourne; the Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences (S.A.M., A.D.A., E.T.), The University of Melbourne, Parkville; the Department of Developmental Disability Neuropsychiatry and Centre for Healthy Brain Ageing (J.N.T.), UNSW Australia, Sydney; Olga Tennison Autism Research Centre (D.R.H.), School of Psychological Science, La Trobe, Bundoora; and Fragile X Alliance Inc. (Clinic) (J.C.), North Caufield, Australia.
Mark A BellgroveFrom the School of Psychological Sciences, Faculty of Medicine, Nursing and Health Sciences (K.M.C., C.M.K., M.A.B.), and the Centre for Developmental Disability Health Victoria (J.C.), Monash University, Clayton; the Centre for Epidemiology and Biostatistics (Q.M.B.), Melbourne School of Population and Global Health, University of Melbourne; Genetics Education and Health Research (S.A.M., A.D.A., E.T.), the Cytomolecular Diagnostic Research Laboratory (H.R.S., Y.I., X.L., D.E.G.) and Victorian Clinical Genetics Services (A.D.A.), Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Melbourne; the Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences (S.A.M., A.D.A., E.T.), The University of Melbourne, Parkville; the Department of Developmental Disability Neuropsychiatry and Centre for Healthy Brain Ageing (J.N.T.), UNSW Australia, Sydney; Olga Tennison Autism Research Centre (D.R.H.), School of Psychological Science, La Trobe, Bundoora; and Fragile X Alliance Inc. (Clinic) (J.C.), North Caufield, Australia.
Sylvia A MetcalfeFrom the School of Psychological Sciences, Faculty of Medicine, Nursing and Health Sciences (K.M.C., C.M.K., M.A.B.), and the Centre for Developmental Disability Health Victoria (J.C.), Monash University, Clayton; the Centre for Epidemiology and Biostatistics (Q.M.B.), Melbourne School of Population and Global Health, University of Melbourne; Genetics Education and Health Research (S.A.M., A.D.A., E.T.), the Cytomolecular Diagnostic Research Laboratory (H.R.S., Y.I., X.L., D.E.G.) and Victorian Clinical Genetics Services (A.D.A.), Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Melbourne; the Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences (S.A.M., A.D.A., E.T.), The University of Melbourne, Parkville; the Department of Developmental Disability Neuropsychiatry and Centre for Healthy Brain Ageing (J.N.T.), UNSW Australia, Sydney; Olga Tennison Autism Research Centre (D.R.H.), School of Psychological Science, La Trobe, Bundoora; and Fragile X Alliance Inc. (Clinic) (J.C.), North Caufield, Australia.
Julian N TrollorFrom the School of Psychological Sciences, Faculty of Medicine, Nursing and Health Sciences (K.M.C., C.M.K., M.A.B.), and the Centre for Developmental Disability Health Victoria (J.C.), Monash University, Clayton; the Centre for Epidemiology and Biostatistics (Q.M.B.), Melbourne School of Population and Global Health, University of Melbourne; Genetics Education and Health Research (S.A.M., A.D.A., E.T.), the Cytomolecular Diagnostic Research Laboratory (H.R.S., Y.I., X.L., D.E.G.) and Victorian Clinical Genetics Services (A.D.A.), Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Melbourne; the Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences (S.A.M., A.D.A., E.T.), The University of Melbourne, Parkville; the Department of Developmental Disability Neuropsychiatry and Centre for Healthy Brain Ageing (J.N.T.), UNSW Australia, Sydney; Olga Tennison Autism Research Centre (D.R.H.), School of Psychological Science, La Trobe, Bundoora; and Fragile X Alliance Inc. (Clinic) (J.C.), North Caufield, Australia.
Darren R HockingFrom the School of Psychological Sciences, Faculty of Medicine, Nursing and Health Sciences (K.M.C., C.M.K., M.A.B.), and the Centre for Developmental Disability Health Victoria (J.C.), Monash University, Clayton; the Centre for Epidemiology and Biostatistics (Q.M.B.), Melbourne School of Population and Global Health, University of Melbourne; Genetics Education and Health Research (S.A.M., A.D.A., E.T.), the Cytomolecular Diagnostic Research Laboratory (H.R.S., Y.I., X.L., D.E.G.) and Victorian Clinical Genetics Services (A.D.A.), Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Melbourne; the Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences (S.A.M., A.D.A., E.T.), The University of Melbourne, Parkville; the Department of Developmental Disability Neuropsychiatry and Centre for Healthy Brain Ageing (J.N.T.), UNSW Australia, Sydney; Olga Tennison Autism Research Centre (D.R.H.), School of Psychological Science, La Trobe, Bundoora; and Fragile X Alliance Inc. (Clinic) (J.C.), North Caufield, Australia.
Howard R SlaterFrom the School of Psychological Sciences, Faculty of Medicine, Nursing and Health Sciences (K.M.C., C.M.K., M.A.B.), and the Centre for Developmental Disability Health Victoria (J.C.), Monash University, Clayton; the Centre for Epidemiology and Biostatistics (Q.M.B.), Melbourne School of Population and Global Health, University of Melbourne; Genetics Education and Health Research (S.A.M., A.D.A., E.T.), the Cytomolecular Diagnostic Research Laboratory (H.R.S., Y.I., X.L., D.E.G.) and Victorian Clinical Genetics Services (A.D.A.), Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Melbourne; the Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences (S.A.M., A.D.A., E.T.), The University of Melbourne, Parkville; the Department of Developmental Disability Neuropsychiatry and Centre for Healthy Brain Ageing (J.N.T.), UNSW Australia, Sydney; Olga Tennison Autism Research Centre (D.R.H.), School of Psychological Science, La Trobe, Bundoora; and Fragile X Alliance Inc. (Clinic) (J.C.), North Caufield, Australia.
Yoshimi InabaFrom the School of Psychological Sciences, Faculty of Medicine, Nursing and Health Sciences (K.M.C., C.M.K., M.A.B.), and the Centre for Developmental Disability Health Victoria (J.C.), Monash University, Clayton; the Centre for Epidemiology and Biostatistics (Q.M.B.), Melbourne School of Population and Global Health, University of Melbourne; Genetics Education and Health Research (S.A.M., A.D.A., E.T.), the Cytomolecular Diagnostic Research Laboratory (H.R.S., Y.I., X.L., D.E.G.) and Victorian Clinical Genetics Services (A.D.A.), Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Melbourne; the Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences (S.A.M., A.D.A., E.T.), The University of Melbourne, Parkville; the Department of Developmental Disability Neuropsychiatry and Centre for Healthy Brain Ageing (J.N.T.), UNSW Australia, Sydney; Olga Tennison Autism Research Centre (D.R.H.), School of Psychological Science, La Trobe, Bundoora; and Fragile X Alliance Inc. (Clinic) (J.C.), North Caufield, Australia.
Xin LiFrom the School of Psychological Sciences, Faculty of Medicine, Nursing and Health Sciences (K.M.C., C.M.K., M.A.B.), and the Centre for Developmental Disability Health Victoria (J.C.), Monash University, Clayton; the Centre for Epidemiology and Biostatistics (Q.M.B.), Melbourne School of Population and Global Health, University of Melbourne; Genetics Education and Health Research (S.A.M., A.D.A., E.T.), the Cytomolecular Diagnostic Research Laboratory (H.R.S., Y.I., X.L., D.E.G.) and Victorian Clinical Genetics Services (A.D.A.), Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Melbourne; the Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences (S.A.M., A.D.A., E.T.), The University of Melbourne, Parkville; the Department of Developmental Disability Neuropsychiatry and Centre for Healthy Brain Ageing (J.N.T.), UNSW Australia, Sydney; Olga Tennison Autism Research Centre (D.R.H.), School of Psychological Science, La Trobe, Bundoora; and Fragile X Alliance Inc. (Clinic) (J.C.), North Caufield, Australia.
Alison D ArchibaldFrom the School of Psychological Sciences, Faculty of Medicine, Nursing and Health Sciences (K.M.C., C.M.K., M.A.B.), and the Centre for Developmental Disability Health Victoria (J.C.), Monash University, Clayton; the Centre for Epidemiology and Biostatistics (Q.M.B.), Melbourne School of Population and Global Health, University of Melbourne; Genetics Education and Health Research (S.A.M., A.D.A., E.T.), the Cytomolecular Diagnostic Research Laboratory (H.R.S., Y.I., X.L., D.E.G.) and Victorian Clinical Genetics Services (A.D.A.), Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Melbourne; the Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences (S.A.M., A.D.A., E.T.), The University of Melbourne, Parkville; the Department of Developmental Disability Neuropsychiatry and Centre for Healthy Brain Ageing (J.N.T.), UNSW Australia, Sydney; Olga Tennison Autism Research Centre (D.R.H.), School of Psychological Science, La Trobe, Bundoora; and Fragile X Alliance Inc. (Clinic) (J.C.), North Caufield, Australia.
Erin TurbittFrom the School of Psychological Sciences, Faculty of Medicine, Nursing and Health Sciences (K.M.C., C.M.K., M.A.B.), and the Centre for Developmental Disability Health Victoria (J.C.), Monash University, Clayton; the Centre for Epidemiology and Biostatistics (Q.M.B.), Melbourne School of Population and Global Health, University of Melbourne; Genetics Education and Health Research (S.A.M., A.D.A., E.T.), the Cytomolecular Diagnostic Research Laboratory (H.R.S., Y.I., X.L., D.E.G.) and Victorian Clinical Genetics Services (A.D.A.), Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Melbourne; the Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences (S.A.M., A.D.A., E.T.), The University of Melbourne, Parkville; the Department of Developmental Disability Neuropsychiatry and Centre for Healthy Brain Ageing (J.N.T.), UNSW Australia, Sydney; Olga Tennison Autism Research Centre (D.R.H.), School of Psychological Science, La Trobe, Bundoora; and Fragile X Alliance Inc. (Clinic) (J.C.), North Caufield, Australia.
Jonathan CohenFrom the School of Psychological Sciences, Faculty of Medicine, Nursing and Health Sciences (K.M.C., C.M.K., M.A.B.), and the Centre for Developmental Disability Health Victoria (J.C.), Monash University, Clayton; the Centre for Epidemiology and Biostatistics (Q.M.B.), Melbourne School of Population and Global Health, University of Melbourne; Genetics Education and Health Research (S.A.M., A.D.A., E.T.), the Cytomolecular Diagnostic Research Laboratory (H.R.S., Y.I., X.L., D.E.G.) and Victorian Clinical Genetics Services (A.D.A.), Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Melbourne; the Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences (S.A.M., A.D.A., E.T.), The University of Melbourne, Parkville; the Department of Developmental Disability Neuropsychiatry and Centre for Healthy Brain Ageing (J.N.T.), UNSW Australia, Sydney; Olga Tennison Autism Research Centre (D.R.H.), School of Psychological Science, La Trobe, Bundoora; and Fragile X Alliance Inc. (Clinic) (J.C.), North Caufield, Australia.
David E GodlerFrom the School of Psychological Sciences, Faculty of Medicine, Nursing and Health Sciences (K.M.C., C.M.K., M.A.B.), and the Centre for Developmental Disability Health Victoria (J.C.), Monash University, Clayton; the Centre for Epidemiology and Biostatistics (Q.M.B.), Melbourne School of Population and Global Health, University of Melbourne; Genetics Education and Health Research (S.A.M., A.D.A., E.T.), the Cytomolecular Diagnostic Research Laboratory (H.R.S., Y.I., X.L., D.E.G.) and Victorian Clinical Genetics Services (A.D.A.), Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Melbourne; the Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences (S.A.M., A.D.A., E.T.), The University of Melbourne, Parkville; the Department of Developmental Disability Neuropsychiatry and Centre for Healthy Brain Ageing (J.N.T.), UNSW Australia, Sydney; Olga Tennison Autism Research Centre (D.R.H.), School of Psychological Science, La Trobe, Bundoora; and Fragile X Alliance Inc. (Clinic) (J.C.), North Caufield, Australia.
University of Melbourne · AUMonash University · AU
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo examine the epigenetic basis of psychiatric symptoms and dysexecutive impairments in FMR1 premutation (PM: 55 to 199 CGG repeats) women.
methodsA total of 35 FMR1 PM women aged between 22 and 55 years and 35 age- and IQ-matched women controls (CGG <45) participated in this study. All participants completed a range of executive function tests and self-reported symptoms of psychiatric disorders. The molecular measures included DNA methylation of the FMR1 CpG island in blood, presented as FMR1 activation ratio (AR), and 9 CpG sites located at the FMR1 exon1/intron 1 boundary, CGG size, and FMR1 mRNA levels.
resultsWe show that FMR1 intron 1 methylation levels could be used to dichotomize PM women into greater and lower risk categories (p = 0.006 to 0.037; odds ratio = 14-24.8), with only FMR1 intron 1 methylation, and to a lesser extent AR, being significantly correlated with the likelihood of probable dysexecutive or psychiatric symptoms (p < 0.05). Furthermore, the significant relationships between methylation and social anxiety were found to be mediated by executive function performance, but only in PM women. FMR1 exon 1 methylation, CGG size, and FMR1 mRNA could not predict probable dysexecutive/psychiatric disorders in PM women.
conclusionsThis is the first study supporting presence of specific epigenetic etiology associated with increased risk of developing comorbid dysexecutive and social anxiety symptoms in PM women. These findings could have implications for early intervention and risk estimate recommendations aimed at improving the outcomes for PM women and their families.
Indexed as
DNA MethylationPhenotypeAdultBiomarkersCohort StudiesEpigenesis, GeneticExecutive FunctionFemaleFragile X Messenger Ribonucleoprotein 1HumansMiddle AgedMutationPhobic DisordersRiskTrinucleotide Repeat ExpansionYoung AdultBiomarkersFragile X Messenger Ribonucleoprotein 1
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