A novel mutation in the mutations in the methyl-CpG-binding protein 2 (MECP2) gene in a Chinese patient with typical Rett syndrome and subsequent prenatal diagnosis

Rett syndrome (RTC), which is a progressive neurodevelopmental disorder characterized by early neurological regression, severely affects cognitive function, as well as motor and language skills. Mutations in the methyl-CpG-binding protein 2 (MECP2) gene have been found in most patients with typical RTT. In this study, a female patient with severe symptoms was diagnosed as typical RTT according to the revised diagnostic criteria. Genetic analysis reveals that the child had a novel frameshift mutation, c.368delA (p.Tyr123PhefsX2), in exon 3 of the MECP2 gene. After genetic counseling, the parents were referred to the present clinic for prenatal diagnosis during their second pregnancy. The mutation was not detected in this fetus and was predicted to be unaffected by KIT. Here, the authors report a novel mutation in the MECP2 gene of a patient with typical RTT, which provides accurate information for genetic counseling and prenatal diagnosis.