Does my child’s mutation type determine her clinical features or symptoms (phenotype)?
Just as in any other disorder, the level of disability ranges from mild to severe. It is difficult to predict the intensity of symptoms in any individual child. Many girls begin walking within the normal range, while others show significant delay or inability to walk independently. Some begin walking and lose this skill, while others continue to walk throughout life. Still others do not walk until late childhood or adolescence. The same range holds true for using her hands and other skills she may acquire. The clinical features of a particular trait or disorder make up an individual’s phenotype. The gene for a given trait or disorder leads to the person’s genotype. By comparing the two, we are able to correlate the clinical features with a given mutation. In Rett syndrome, this may allow us in the future to make certain predictions on the likelihood of developing specific features such as scoliosis or epilepsy, but much data must still be collected before we can make these predictions.
