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Article

Somatic Instability Leading to Mosaicism in Fragile X Syndrome and Associated Disorders: Complex Mechanisms, Diagnostics, and Clinical Relevance.

International journal of molecular sciences - 21 Dec 2024

Protic Dragana, Polli Roberta, Bettella Elisa, Usdin Karen, Murgia Alessandra, Tassone Flora

Abstract excerpt

Fragile X syndrome (FXS) is a genetic condition caused by the inheritance of alleles with >200 CGG repeats in the 5' UTR of the fragile X messenger ribonucleoprotein 1 (FMR1) gene. These full mutation (FM) alleles are associated with DNA methylation and gene silencing, which result in intellectual disabilities, developmental delays, and social and behavioral issues. Mosaicism for both the size of the CGG repeat...

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PMID: 39769443
DOI: 10.3390/ijms252413681

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