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

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 blood (n = 68; R²  = 0.597; p = 1.4 × 10^-10 ) and buccal epithelial cells (BEC)

SUBMITTER: Baker EK 

PROVIDER: S-EPMC10952635 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature