脆性X综合征(fragile X syndrome,FXS)是导致智力障碍和孤独症谱系障碍较常见的单基因疾病之一,其表型复杂、临床异质性大,以致早期诊断较为困难.潜在的FXS患者数量较大,存在诊断不足甚至误诊的问题.该文从基于人群的筛查和基于个体临床表型的识别两个维度,对当前FXS的筛查和早期识别方法、模式进行总结,为临床实践和规模化筛查提供支持,为疾病的管理提供参考.以基因工程、人工智能为代表的新技术,或可为FXS筛查和早期识别提供新的机会.
Progress on early screening and recognition of fragile X syndrome
Fragile X syndrome(FXS)is one of the most common single-gene disorders that cause intellectual disability and autism spectrum disorders.It is characterized by a complex phenotype and clinical heterogeneity,which poses challenges for early diagnosis.The number of potential FXS patients is large,and many of them face the dilemma of under-diagnosis or even misdiagnosis.This paper provides an overview of current screening and early identification methods and models for FXS,encompassing population-based screening approaches as well as individual clinical phenotype-based identification strategies.These finding's offer valuable support for clinical practice,mass screening and disease management.Furthermore,advancements in genetic engineering and artificial intelligence technology hold promise to revolutionize FXS screening and early identification.
Fragile X syndromeEarly screeningEarly identification
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