Article
FMR1 Protein Expression Correlates with Intelligence Quotient in Both Peripheral Blood Mononuclear Cells and Fibroblasts from Individuals with an FMR1 Mutation.
The Journal of molecular diagnostics : JMD - 1 Jun 2024
Jiraanont Poonnada, Zafarullah Marwa, Sulaiman Noor, Espinal Glenda M, Randol Jamie L, Durbin-Johnson Blythe, Schneider Andrea, Hagerman Randi J, Hagerman Paul J, Tassone Flora
Abstract excerpt
Fragile X syndrome (FXS) is the most common heritable form of intellectual disability and is caused by CGG repeat expansions exceeding 200 (full mutation). Such expansions lead to hypermethylation and transcriptional silencing of the fragile X messenger ribonucleoprotein 1 (FMR1) gene. As a consequence, little or no FMR1 protein (FMRP) is produced; absence of the protein, which normally is responsible for...
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