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

Genotype-phenotype relationships in fragile X families  

Fragile X syndrome is one of a group of conditions called trinucleotide repeat disorders, in which a pattern of three DNA nucleotides (CGG in this case) is repeated several times. These conditions are often caused by a gene change that begins with a premutation (with fewer repetitions of the pattern) and then expands to a full mutation in subsequent generations. This study explores both the neurodevelopmental and neurodegenerative effects of the premutation in both children (ages 8-16) and adults (over age 40) with the premutation (55-200 CGG repeats). A cohort of 500 adults and 150 children will be evaluated by a detailed neurological examination and a quantitative measurement of movement problems. In addition, psychiatric measures, neuropsychological testing, and magnetic resonance imaging (MRI) will be used to assess involvement in carriers of the mutation. These studies will enhance understanding of the premutation phenotype. Project Status


Funder National Institutes of Health
Fiscal Year Funding $535,019.00
Current Award Period 2007-2012
Project Number 5R01HD036071-12
Principal Investigator Hagerman, Randi
Received ARRA Funding? No
Strategic Plan Question Question 2: How Can I Understand What Is Happening? (Biology)
Subcategory Subgroups/Biosignatures
Strategic Plan Objective Green dot: Objective has greater than or equal to the recommended funding. 2SD. Launch three studies that target improved understanding of the underlying biological pathways of genetic conditions related to autism (e.g. Fragile X, Rett syndrome, tuberous sclerosis complex) and how these conditions inform risk assessment and individualized intervention by 2012. IACC Recommended Budget: $9,000,000 over 5 years.
Federal or Private? Federal
Institution University of California, Davis
State/Country California
Web Link 1 Genotype-phenotype relationships in fragile X families (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
New! History/Related Projects Genotype-phenotype relationships in fragile X families | $541,900.00 | 2009 | 5R01HD036071-11
Genotype-phenotype relationships in fragile X families | $533,062.00 | 2008 | R01HD036071-10