脆性X综合征分子机制与诊治进展

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

脆性X综合征(FXS)是最常见的遗传性智力低下疾病,也是引起孤独症谱系障碍(ASD)最常见的单基因疾病。主要表现为中度学习障碍至重度智力障碍,并伴有特殊面容及结缔组织异常。脆性X综合征是由脆性X智力低下基因1 (FMR1)发生突变,导致其编码的脆性X智力低下蛋白(FMRP)合成减少或缺失所致。诊断主要以检测FMR1基因变异为基础,目前尚无有效治疗方式。因此加强遗传咨询,进行产前筛查及产前诊断,减少患儿出生,有效降低脆性X综合征发病率十分重要。

Fragile X syndrome （FXS） is the most common monogenic disease that causes intellec- tual disability and autism spectrum disorder （ASD）, causing moderate to severe mental retardation with un- usual 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 ef- fectively reduce the incidence of fragile X syndrome.