Rett syndrome (RTT) is a devastating neurological disorder that is caused largely by mutations in the X-linked gene MECP2, other two genes associated with RTT are CDKL5 and FOXG1.RTT is one of the most common causes of mental retardation in girls, male cases are rare.Classical features of typical RTT include losing acquired spoken language and hand skills, hand stereotypies, epilepsy and respiratory disorders.The diagnosis of RTT mainly depends on the clinical characteristics.Atpresent, it still lacks atargeted treatment.In this review, we summarize both the gene research, diagnosis and treatmentprogresses of RTT so as to improve the understanding of RTT. 
 
 
Key words: 
Rett syndrome; Female; Mecp2; Diagnosis; Treatment

Rett syndrome is a devastating neurological disorder caused by mutations in the X-linked gene MECP2, with CDKL5 and FOXG1 also involved, and currently lacks a targeted treatment.

Updates on pathogenesis-related genes and diagnosis and treatment of Rett syndrome

Key Takeaway: Rett syndrome is a devastating neurological disorder caused by mutations in the X-linked gene MECP2, with CDKL5 and FOXG1 also involved, and currently lacks a targeted treatment.