Abstract
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and the leading monogenic cause of autism spectrum disorder. Although FXS has been studied for several decades, there is relatively little basic science or clinical research being performed on FXS in China. Indeed, there is a large gap between China and Western countries in the FXS field. China has a potentially large number of FXS patients. However, many of them are underdiagnosed or even misdiagnosed, and treatments are not always administered in the Chinese population. This review discusses the prevalence, treatment, and prevention of FXS in China to facilitate an understanding of this disease in the Chinese population.
Highlights
Fragile X syndrome (FXS) is the most significant monogenic cause of intellectual disability (ID) and autism spectrum disorder (ASD)
Fragile X syndrome has been extensively studied around the world, especially in Western countries
Fragile X mental retardation 1 protein, the translation product of fragile X mental retardation 1 gene (FMR1), is a translational regulation factor that can control most of the proteins important for synaptic maturation and plasticity
Summary
Fragile X syndrome (FXS) is the most significant monogenic cause of intellectual disability (ID) and autism spectrum disorder (ASD). FXS is caused by an expansion of CGG repeats >200 in the 5′ untranslated region of the 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). The full FMR1 mutation is associated with a typical FXS phenotype in males leading to mild to severe ID. FXS in female individuals tends to be associated with less severe ID in which 30% have an IQ > 85 and associated behaviors include poor eye contact, anxiety, ASD, compulsive behavior, attention deficit hyperactivity disorder (ADHD), and learning disabilities [4]. FXTAS is a neurodegenerative disease that is observed in 40% of male and 16% of female premutation carriers. The probability of size mosaicism is 4/5 FXS patients; the CGG size mosaicism is very common among patients with FXS [8]
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