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Article

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

American journal of medical genetics. Part A - 1 Feb 2023

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

Abstract excerpt

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...

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Share to DNA Methylation
Share to Fragile X Mental Retardation Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36349505
DOI: 10.1002/ajmg.a.63027
PMCID: PMC10952635

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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