FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene

FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene

Fragile X syndrome (FXS) is mostly caused by two distinct events that occur in the FMR1 gene (Xq27.3): an expansion above 200 repeats of a CGG triplet located in the 5′UTR of the gene, and methylation of the cytosines located in the CpG islands upstream of the CGG repeats. Here, we describe two unre...

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Bibliographic Details
Main Authors: Esperanza Fernández, Elena Gennaro, Filomena Pirozzi, Chiara Baldo, Francesca Forzano, Licia Turolla, Francesca Faravelli, Denise Gastaldo, Domenico Coviello, Marina Grasso, Claudia Bagni
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-11-01
Series:Frontiers in Genetics
Subjects:
FMRP
FMR1 mRNA
CGG expansion
fragile X syndrome
mosaicism
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2018.00442/full

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https://www.frontiersin.org/article/10.3389/fgene.2018.00442/full

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