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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

Identifying the gene in 17q12 responsible for neuropsychiatric phenotypes

Principal Investigator

Principal Investigator

Lese Martin, Christa

Description

Description

Copy-number variations (CNVs) are losses or gains of genetic material, such as a deletion or duplication of a chromosomal region. There is growing evidence that CNVs play a major role in causing autism spectrum disorders and other brain disorders. Christa Lese Martin and her colleagues at Emory University in Baltimore, along with David Ledbetter at Geisinger Health System, propose to map the genes linked to autism and schizophrenia. In 2011, the researchers reported a 1.4-megabase deletion in the chromosomal region 17q12. This region is associated with autism and schizophrenia, which are both considered to be disorders of brain development. It includes 15 genes, one or more of which may cause the clinical features observed in individuals with this CNV. In this study, the researchers plan to identify which of these genes cause autism spectrum disorders and schizophrenia by using two different methods. They plan to perform DNA sequence analysis of the 15 genes to find changes in the sequence of each gene individually, and conduct high-resolution studies of CNVs in each gene in the region to look for deletions or duplications involving only a single gene or part of the gene. The proposed study focuses on individuals who have a large head size and autism, since these clinical features are most often observed in individuals with 17q12 deletions. The researchers also plan to examine the clinical features of individuals with 17q12 deletions to assess how these people are similar to one another. The identification of a gene associated with autism from this region would allow further detailed studies to help researchers understand how the gene causes the disorder, which may lead to therapeutic targets for treatment.

Funder

Funder

Simons Foundation

Fiscal Year Funding

Fiscal Year Funding

180140

Current Award Period

Current Award Period

2011-2014

Strategic Plan Question

Strategic Plan Question

Question 2: How Can I Understand What Is Happening?

Strategic Plan Objective

Strategic Plan Objective

Green dot: Objective has greater than or equal to the recommended funding. 2SG. Support five studies that associate specific genotypes with functional or structural phenotypes, including behavioral and medical phenotypes (e.g., nonverbal individuals with ASD and those with cognitive impairments) by 2015. IACC Recommended Budget: $22,600,000 over 5 years.

Project Link

Project Link

Identifying the gene in 17q12 responsible for neuropsychiatric phenotypes (External web link)

Institution

Institution

Emory University

State/Country

State/Country

Georgia

Project Number

Project Number

215355

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Identifying the gene in 17q12 responsible for neuropsychiatric phenotypes | 92640 | 2011 | 215355
Identifying the gene in 17q12 responsible for neuropsychiatric phenotypes | 0 | 2015 | 215355
Identifying the gene in 17q12 responsible for neuropsychiatric phenotypes | 140875 | 2014 | 215355
Identifying the gene in 17q12 responsible for neuropsychiatric phenotypes | 228375 | 2013 | 215355

 
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