摘要
脆性X相关性疾病(FragileXassociatedDisorders,FXD)是由脆性X智力低下蛋白(FragileXMental Retardation Protein,FMRP)部分或完全丧失引起的家族遗传性疾病。其中脆性X综合征(Fragile X syndrome,FXS)是遗传性智力残疾和自闭症的最常见原因之一,其发病率仅次于唐氏综合征,占非特发性智力低下患者的2%-6%,在X连锁智力低下患者中占40%。FXD临床表现不典型,遗传方式多样化。本文将从FXD的临床表现,FMR1基因及其致病机制,FMRP结构及其对转录翻译过程中的影响等方面进行综述。
Fragile X associated Disorders(FXD)are a familial hereditary disease caused by partial or complete loss of Fragile X Mental Retardation Protein(FMRP). Fragile X syndrome(FXS)is the most common cause of hereditary intellectual disability and autism,and is one of the most common hereditary mental retardation diseases. The morbidity is only second to Down′s syndrome,accounting for 2%-6% of non-idiopathic and 40% of X-linked mental retardation patients. The clinical manifestation of FXD is not typical,and the genetic mode is diversified. This article reviews the clinical manifestations of FXD,FMR1 gene and its pathogenesis,FMRP structure and its effect on transcription and translation.
引文
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