Ontology highlight
ABSTRACT:
SUBMITTER: Protic D
PROVIDER: S-EPMC6930353 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Protic Dragana D Salcedo-Arellano Maria J MJ Dy Jeanne Barbara JB Potter Laura A LA Hagerman Randi J RJ
Current pediatric reviews 20190101 4
Fragile X Syndrome (FXS) is the most common cause of inherited intellectual disability with prevalence rates estimated to be 1:5,000 in males and 1:8,000 in females. The increase of >200 Cytosine Guanine Guanine (CGG) repeats in the 5' untranslated region of the Fragile X Mental Retardation 1 (FMR1) gene results in transcriptional silencing on the FMR1 gene with a subsequent reduction or absence of fragile X mental retardation protein (FMRP), an RNA binding protein involved in the maturation and ...[more]