RETT SYNDROME: FROM MUTATION TO THE CLINICAL PICTURE

Rett syndrome is a progressive, neurogenetic disorder. The syndrome, which has an X-dominant inheritance, affects girls predominantly. After Down syndrome, Rett syndrome is the second leading cause of mental retardation seen in girls. After a normal development for 6-18 months, the disease appears with symptoms such as acquired microcephaly, psychomotor retardation, unpurposeful hand movements. Because of the autistic symptoms commonly seen in the disorder, more attention for including Rett syndrome in the differential diagnosis of a number of conditions is being paid. The aim of this review is to evaluate the relationship between etiology and clinical features of the syndrome with respect to the recent advances in its molecular basis.