目的　探讨Rett综合征的临床特点及致病基因。方法　回顾分析1例Rett综合征患儿的临床资料及二代测序 结果，并进行相关文献复习。结果　男性患儿， 5个月，因间断咳嗽半月余入院，后自主呼吸障碍显著，语言能力丧失，手 部技能丧失并出现刻板动作，生长发育迟滞。二代基因检测发现MECP2基因存在c.194delC(P.S65X)半合突变，此突变尚 未见文献报道，其父母该位点均无变异。结论　发现国内首例MECP2基因致病突变导致男性Rett综合征。

Objective　To explore clinical manifestations and genetic changes in Rett syndrome. Methods　The clinical data and genetic changes identified by next generation sequencing of a boy with Rett syndrome were retrospectively analyzed, and relevant literatures were reviewed. Results　A 5 months old boy presented with severe abnormal breathing, losing acquired purposeful hand skills and spoken language, hand stereotypies and gait abnormalities, and growth retardation. Genetic tests identified a novel c.194delC (P.S65X) hemizygous mutation in MECP2; which was not found in his parents. Conclusions　 Reports about male Rett syndrome patients are rare. This is the first case in China and it’s also the first review of published reports of Rett syndrome in Chinese male patients.