Abstract：
Fragile X syndrome (FXS) is the most common monogenic form of inherited intellectual disability and autism spectrum disorder (ASD). More than 99% of individuals with FXS are caused by the unstable expansion of CGG repeats located within the 5\'-untranslated region of the FMR1 gene. The clinical features of FXS include various degrees of cognitive deficit, physical, behavioral and psychiatric problems. Early treatment and prevention from having further affected children can be guided by molecular genetic testing of the FMR1 gene. The following guideline has combined the relevant research, guidelines and consensus worldwide, and summarized the genetic knowledge and clinical treatment for FXS in order to achieve a standardized diagnosis, treatment and prevention for patients and families affected by this disease.
摘要：
脆性X综合征（FXS）是遗传性智力障碍和自闭症谱系障碍（ASD）最常见的单基因形式。超过99％的FXS个体是由位于FMR1基因5'-非翻译区内的CGG重复序列的不稳定扩增引起的。FXS的临床特征包括不同程度的认知缺陷，物理，行为和精神问题。可以通过FMR1基因的分子遗传检测来指导早期治疗和预防进一步受影响的儿童。以下指南结合了相关研究，全球准则和共识，并总结了FXS的遗传学知识和临床治疗方法,为受这种疾病影响的患者和家庭提供治疗和预防。
