Project Detail
Interagency Autism Coordinating Committee (IACC) logo
Office of Autism Research Coordination (OARC) logo

The role of the Rett gene, chromosone 15Q11-Q13, other genes, and epigenetics  

Rare cases of genetic or epigenetic diseases can provide major insights into more common factors of the same or similar phenotypes. For example, a few genetic or epigenetic conditions can present with typical autism, including fragile X syndrome, tuberous sclerosis, mutations in the MECP2 gene (causing Rett syndrome), and mutations within chromosome 15q11-q13. There may be more patients diagnosed with autism spectrum disorders (ASD) that have mutations or epimutations involving MECP2, genes within chromosome 15q11-q13, and the loci causing fragile X syndrome and tuberous sclerosis than are currently recognized. Additionally, genes that interact with MECP2 and UBE3A are candidate genes for mutation or epimutation causing autism. This study will use in depth genotype/phenotype and epigenotype/phenotype correlations in autistic patients with known abnormalities in MECP2 and UBE3A genes and regions to provide insight into more common forms of autism. Mutation and epimutation analyses on other autism candidate genes will be performed based on their potential to explain the male predominance in autism or their relationship to the functional, biochemical, or regulatory pathways of the genes that cause disorders with phenotypes similar to ASD. Project Status


Funder National Institutes of Health
Fiscal Year Funding $18,368.00
Project Number 5M01RR000188-45
Principal Investigator Beaudet, Arthur
Received ARRA Funding? No
Strategic Plan Question Question 3: What Caused This To Happen And Can This Be Prevented? (Risk Factors)
Strategic Plan Objective Green dot: Objective has greater than or equal to the recommended funding. 3LB. Identify genetic risk factors in at least 50% of people with ASD by 2014. IACC Recommended Budget: $33,900,000 over 6 years.
Federal or Private? Federal
Institution Baylor College of Medicine
State/Country Texas
Web Link 1 The role of the Rett gene, chromosone 15Q11-Q13, other genes, and epigenetics (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects N/A