Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families

Fragile X syndrome (FXS) is mostly due to the expansion and subsequent methylation of a polymorphic CGG repeat in the 5’ UTR of the FMR1 gene. Full mutation alleles (FM) have more than 200 repeats and result in FMR1 gene silencing and FXS. FMs arise from maternal premutations (PM) that have 56–200 C...

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Détails bibliographiques
Publié dans:Genes (Basel)
Auteurs principaux: Tabolacci, Elisabetta, Pietrobono, Roberta, Maneri, Giulia, Remondini, Laura, Nobile, Veronica, Della Monica, Matteo, Pomponi, Maria Grazia, Genuardi, Maurizio, Neri, Giovanni, Chiurazzi, Pietro
Format: Artigo
Langue:Inglês
Publié: MDPI 2020
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7140891/
https://ncbi.nlm.nih.gov/pubmed/32111011
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11030248
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