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Interagency Autism Coordinating Committee (IACC)
Autism Research Database
Office of Autism Research Coordination (OARC)
 
Project Element Element Description

Project Title

Project Title

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

Principal Investigator

Principal Investigator

Beaudet, Arthur

Description

Description

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.

Funder

Funder

National Institutes of Health

Fiscal Year Funding

Fiscal Year Funding

18368

Current Award Period

Current Award Period

na

Strategic Plan Question

Strategic Plan Question

Question 3: What Caused This To Happen And Can This Be Prevented?

Strategic Plan Objective

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.

Project Link

Project Link

The role of the Rett gene, chromosone 15Q11-Q13, other genes, and epigenetics (External web link)

Institution

Institution

Baylor College of Medicine

State/Country

State/Country

Texas

Project Number

Project Number

5M01RR000188-45

Federal or Private?

Federal or Private?

Federal

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

N/A

 
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