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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Detalles Bibliográficos
Autores principales: Tabolacci, Elisabetta, Pietrobono, Roberta, Maneri, Giulia, Remondini, Laura, Nobile, Veronica, Della Monica, Matteo, Pomponi, Maria Grazia, Genuardi, Maurizio, Neri, Giovanni, Chiurazzi, Pietro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140891/
https://www.ncbi.nlm.nih.gov/pubmed/32111011
http://dx.doi.org/10.3390/genes11030248

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140891/
https://www.ncbi.nlm.nih.gov/pubmed/32111011
http://dx.doi.org/10.3390/genes11030248

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