Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome

Emma K Baker; Marta Arpone; Bui Minh; Claudine M Kraan; Ling Ling; David Francis; Mathew F Hunter; Carolyn Rogers; Michael J Field; Lorena Santa Maria; Victor Faundes; Bianca Curotto; Paulina Morales; Cesar Trigo; Isabel Salas; Angelica M Alliende; David J Amor; David E Godler

Journal article

Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome

Emma K Baker, Marta Arpone, Bui Minh, Claudine M Kraan, Ling Ling, David Francis, Mathew F Hunter, Carolyn Rogers, Michael J Field, Lorena Santa Maria, Victor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, Angelica M Alliende, David J Amor, David E Godler

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WILEY | Published : 2023

DOI: 10.1002/ajmg.a.63027

Abstract

Fragile X syndrome (FXS) is caused by hypermethylation of the FMR1 promoter due to the full mutation expansion (full mutation [FM]: CGG ≥ 200 repeats) and silencing of FMR1. Assessment of mosaicism for active-unmethylated alleles has prognostic utility. This study examined relationships between FMR1 methylation in different tissues with FMR1 messenger ribonucleic acid (mRNA) and intellectual functioning in 87 males with FXS (1.89–43.17 years of age). Methylation sensitive Southern blot (mSB) and Methylation Specific-Quantitative Melt Aanalysis (MS-QMA) were used to examine FMR1 methylation. FMR1 mRNA levels in blood showed strong relationships with FMR1 methylation assessed using MS-QMA in b..

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University of Melbourne Researchers

Claudine Kraan Author

David Amor Author

David Godler Author

Minh Bui 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 Financial Markets Foundation for Children

Awarded by Medical Research Future Fund

Awarded by National Health and Medical Research Council

Awarded by NHMRC Early Career Fellowship

Funding Acknowledgements

Chile's National Commission for Scientific and Technological Research; Comision Nacional de Investigacion Cientifica Y Tecnologica; Financial Markets Foundation for Children, Grant/Award Number: 2017-361; International Postgraduate Research Scholarship; Martin & E.H. Flack Trust; Medical Research Future Fund, Grant/Award Number: 1141334; Murdoch Children's Research Institute; National Health and Medical Research Council, Grant/Award Numbers: 1103389, 1049299; Pierce Armstrong Trust; Research Training Program Scholarship; Royal Children's Hospital Foundation; The Victorian Government's Operational Infrastructure Support Program; NHMRC Early Career Fellowship, Grant/Award Number: 1112934