Advances in the molecular mechanism and diagnosis and treatment of fragile X syndrome

Fragile X syndrome (FXS) is the most common monogenic disease that causes intellectual disability and autism spectrum disorder (ASD), causing moderate to severe mental retardation with unusual facial features and connective tissue abnormalities. Fragile X syndrome is caused by the mutation of FMR1 gene, resulting in the reduction or loss of its product, fragile X mental retardation protein (FMRP) .The diagnosis is mainly based on the detection of FMR1 gene , and there is no effective treatment for fragile X syndrome. Therefore, it is very important to strengthen genetic counseling and prenatal diagnosis, and effectively reduce the incidence of fragile X syndrome. Key words: Fragile X syndrome/GE/DI/TH; Fragile X mental retardation protein/GE; Prenatal diagnosis