Pathophysiology of Rett Syndrome

2022

This is a study designed to gain more information about Rett Syndrome and mutations in MECP2, the gene associated with RS, and to compare the features with the type of mutation. Females with Rett syndrome may or may not have mutations in this gene, more than 80% of females with the typical features of Rett syndrome will have a mutation in this gene. Individuals without the features of Rett syndrome, but with features of autism or with below normal may have mutations in this gene. By looking for a mutation in this gene, we hope to learn more about the spectrum of neurodevelopmental disorders associated with such mutations. In addition, we will examine a process in females known as X chromosome inactivation. This process occurs in all cells in order that one of each pair of X chromosomes is inactivated. The study will determine the pattern of inactivation for each of these X chromosomes.

Rett Syndrome; MECP2; mutations; autism; X-linked MR

Performing Research or Evaluation

Quality Assurance, Child Care-Related Activities, Health-Related Activities

Professionals and Para-Professionals, Family Members/Caregivers, Adults with Disabilities, Children/Adolescents with Disabilities/SHCN

Racial or Ethnic Minorities, Disadvantaged Circumstances, Limited English, Geographic Areas, Rural/Remote, Urban, Specific Groups

National, International

Federal

N/A