Abstract: 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.