脆性X综合征的临床实践指南  

Clinical practice guidelines for Fragile X syndrome

作　　者：中国医师协会医学遗传医师分会临床遗传学组 中华医学会医学遗传学分会临床遗传学组 中华预防医学会出生缺陷预防与控制专业委员会遗传病防控学组 段然慧[2] 李光旭 席惠[3] 彭莹 邬玲仟[2] Clinical Genetics Group,Medical Geneticist Branch,Chinese Medical Doctor Association;Clinical Genetics Group,Medical Genetics Branch,Chinese Medical Association;Genetic Disease Prevention and Control Group,Professional Committee for Birth Defect Prevention and Control,Chinese Preventive Medicine Association;Duan Ranhui;Li Guangxu;Xi Hui;Peng Ying;Wu Lingqian

机构地区：[1]不详 [2]中南大学医学遗传学研究中心、湖南家辉遗传专科医院 [3]湖南省妇幼保健院

出　　处：《中华医学遗传学杂志》2022年第11期1181-1186,共6页Chinese Journal of Medical Genetics

基　　金：湖南省出生缺陷协同防治科技重大专项(2019SK1010);国家重点研发项目(生殖健康及重大缺陷防控研究专项)(2021YFC1005305)。

摘　　要：脆性X综合征(fragile X syndrome,FXS)是导致遗传性智力障碍和孤独症谱系障碍(autistic spectrum disorder,ASD)最常见的单基因病。超过99%的FXS都是由FMR1基因5′非翻译区CGG重复的扩增动态突变所致,临床上表现为不同程度的认知功能障碍,伴有特殊面容、行为及心理异常。对FMR1基因进行检测能够尽快明确病因、及早干预并指导家系成员再生育。本指南结合了国内外的相关研究和指南共识,总结了FXS相关的遗传学知识和临床处置要点,期望能为临床工作者提供帮助,以促进FXS的规范诊断、治疗和预防。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.

关 键 词：CGG重复扩增 FMR1基因 遗传咨询 实践指南 

分 类 号：R596.1[医药卫生—内科学]