is rett syndrome caused by a single gene or more than one gene?
Its is hard to say, Please read the following it seems like a lot but it’ll give you a better idea:
Most cases of classic Rett syndrome are caused by mutations in the MECP2 gene. This gene provides instructions for making a protein (MeCP2) that is critical for normal brain development. The MeCP2 protein likely plays a role in forming connections (synapses) between nerve cells. Researchers believe that this protein has several functions, including regulating other genes in the brain by switching them off when they are not needed. The MeCP2 protein may also control the production of different versions of certain proteins in nerve cells. Although mutations in the MECP2 gene disrupt the normal function of nerve cells, it is unclear how these mutations lead to the signs and symptoms of Rett syndrome.
Males with mutations in the MECP2 gene often die before birth or in infancy. A small number of males with a MECP2 mutation, however, have developed signs and symptoms similar to those of classic Rett syndrome. Some of these boys have an extra X chromosome in many or all of the body’s cells. The extra X chromosome contains a normal copy of the MECP2 gene, which produces enough of the MeCP2 protein for the boys to survive. Other males with features of Rett syndrome have mutations in the MECP2 gene that occur after conception and are present in only a fraction of the body’s cells. In rare cases, researchers have discovered that the MECP2 gene is abnormally duplicated in boys with intellectual disability and some developmental problems characteristic of Rett syndrome.
Mutations in the CDKL5 gene cause an atypical form of Rett syndrome in females called the early-onset seizure variant. The CDKL5 gene provides instructions for making a protein that appears to be essential for normal brain development. Although the function of this protein is unknown, it may play a role in regulating the activity of other genes. Researchers are working to determine how mutations in the CDKL5 gene lead to seizures and the features of Rett syndrome in affected girls.
Also the following is what someone had written on the rettnet
“Rett syndrome is a clinical diagnosis. This means saying someone has Rett
syndrome depends on their clinical picture, regardless of whether a mutation is present or not. To determine whether a mutation is
responsible in your daughter would require one or both parents to be
tested looking specifically for the mutation. Typically one parent (either one) is tested first. If not found in the 1st parent, proceed to testing the 2nd parent. If a mutation is found in either parent, it is likely a polymorphism which is
a non-disease producing variation. If no mutation is found in eitherparent, then it likely to be signficant and responsible for whatever
difficulties she demonstrates. Again, Rett syndrome is a clinical diagnosis, so it is possible to have a non-polymorphism mutation in this
gene and not have Rett syndrome”
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