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

VernacularTitle:脆性X综合征分子机制与诊治进展
Author: Cailing XU ¹ ; Fang YANG
Author Information

1. 南方医科大学南方医院产前诊断中心
Keywords: Fragile X syndrome/GE/DI/TH; Fragile X mental retardation protein/GE; Prenatal diagnosis
From: Journal of Chinese Physician 2018;20(7):973-975
CountryChina
Language:Chinese
Abstract: 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.