Rett’s syndrome is a disorder affecting girls mainly, impairing the central nervous system. The common symptoms of Rett’s syndrome include speech loss, loss of coordination, loss of intellect and behavioural problems, stereotyped hand movements, seizures, sleep disorders, breathing problems and scoliosis (curving of spine). The affected child develops normally during early months and then the symptoms may start to show, slowing down the growth, both mental and physical.
Almost all cases of Rett’s syndrome are due to mutation in MECP2 gene, which is the methyl CpG binding protein 2. This gene is critical for synthesis of proteins required brain development. It is also used by the body to instruct other genes to start or stop production of their unique proteins. Thus an individual with Rett’s syndrome can have unbalanced amounts of proteins because of MECP2 gene, causing abnormalities in other genes too. Cases of mutation in CDKL5 & FOXG1 genes in humans have also been diagnosed of Rett’s syndrome. The mutation is random and there are bleak chances that a family with a patient will have another case of Rett’s syndrome. Females which carry such a mutation in MECP2 gene without manifesting any symptoms are called asymptomatic female