Significantly Elevated <i>FMR1</i> mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing

Significantly Elevated <i>FMR1</i> mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing

Although fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with &#8805;200 cytosine-guanine-guanine (CGG) repeats, and a decrease in <i>FMR1</i> mRNA and its protein (FMRP), incomplete silencing has been associated with more severe autism features i...

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Bibliographic Details
Main Authors: Michael Field, Tracy Dudding-Byth, Marta Arpone, Emma K. Baker, Solange M. Aliaga, Carolyn Rogers, Chriselle Hickerton, David Francis, Dean G. Phelan, Elizabeth E. Palmer, David J. Amor, Howard Slater, Lesley Bretherton, Ling Ling, David E. Godler
Format: Article
Language:English
Published: MDPI AG 2019-08-01
Series:International Journal of Molecular Sciences
Subjects:
fragile X syndrome
autism
RNA toxicity
DNA methylation
mosaicism
pediatrics
MS-QMA
AmplideX
Online Access:https://www.mdpi.com/1422-0067/20/16/3907

Internet

https://www.mdpi.com/1422-0067/20/16/3907

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