DOI: https://doi.org/10.14710/jbtr.v5i2.6895

Focal areas of a high rate of fragile X in Indonesia: a long term follow up

Faculty of Medicine, Diponegoro University, Indonesia

Received: 23 Dec 2019; Revised: 31 Dec 2019; Accepted: 31 Dec 2019; Available online: 31 Dec 2019; Published: 31 Dec 2019.
Open Access Copyright (c) 2019 Journal of Biomedicine and Translational Research

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Abstract

Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability (ID) and a leading cause of autism spectrum disorder (ASD). FXS is caused by an expansion of CGG repeats >200 in the 5′ untranslated region of the promotor region fragile X mental retardation 1 gene (FMR1), which is located on Xq27.3.  The abnormal CGG expansion leads to methylation and transcriptional silencing of the FMR1 gene, resulting in a reduction or loss of fragile X mental retardation 1 protein (FMRP) and causes long, thin, and immature dendritic spines, which lead to deficits in cognitive function, behavioral problems, and learning ability

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Keywords: Fragile X syndrome; High Rate; Indonesia

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Language : EN
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