Clinical Feature and Genetics in Rett Syndrome: A Report on Iranian Patients

OBJECTIVES: Rett syndrome is characterized by normal development for the first 6-18 months of life followed by the loss of fine and gross motor skills and the ability to engage in social interaction. In most patients, mutations are found in methyl CpG-binding protein 2 (MECP2) gene. We investigated the relation between Rett clinical diagnosis and mutations in MECP2. MATERIALS & METHODS: Children suspected of Rett syndrome were invited to participate in this study. Twenty-three patients from the Mofid Hospital, Tehran, Iran suffered from classic Rett syndrome diagnostic criteria were enrolled in 2012. The severity of symptoms was assessed for all of them. The peripheral blood samples were collected in EDTA tubes and the genomic DNA was extracted using standard salting out method. The mutation of MEPC2 gene was studied using DNA sequencing method. RESULTS: Overall, 11(47.8%) patients had MECP2 gene mutation, while 12 cases (52.2%) had no mutations. Changes in genetics were associated with phenotypical manifestations. The most prevalent mutation was p.v288 mainly associated with partially or uncontrolled seizures. CONCLUSION: For the first time, we studies the Rett syndrome in terms of clinical manifestations and genetic changes in Iran.