NICHD Fragile X Syndrome Research Information

NICHD conducts and supports research on many aspects of Fragile X syndrome, including its symptoms and how it might be prevented or treated. NICHD-supported researchers discovered the genetic cause for Fragile X syndrome in 1991, and ongoing studies are investigating the far-reaching effects of the gene on development.

Some studies focus on families with known FMR1 mutations and premutations to identify associations with other diseases or conditions. Researchers are also seeking easier, less expensive, and more accurate screening and diagnostic tests that can provide detailed information on a person’s FMR1 status. NICHD researchers are also studying associated disorders, including FXPOI and FXTAS.


  1. Dölen, G., Osterweil, E., Rao, B. S., Smith, G. B., Auerbach, R. D., Chattarji, S., et al. (2007). Correction of fragile X syndrome in mice. Neuron, 56, 955-962.
  2. Latham, G. J. Enabling use of blood spot cards for accurate high-throughput fragile X screening. Retrieved May 7, 2012, from
  3. Hoeft, F., Walter, E., Lightbody, A. A., Hazlett, H. C., Chang, C., Piven, J., et al. (2011). Neuroanatomical differences in toddler boys with fragile X syndrome and idiopathic autism. Archives of General Psychiatry, 68, 295-305.
  4. Hazlett, H. C., Poe, M. D., Lightbody, A. A., Gerig, G., Macfall, J. R., Ross, A. K., et al. (2009). Teasing apart the heterogeneity of autism: Same behavior, different brains in toddlers with fragile X syndrome and autism. Journal of Neurodevelopmental Disorders, 1, 81-90.
  5. Hazlett, H. C. A longitudinal MRI study of brain development in Fragile X syndrome. Retrieved May 7, 2012, from
  6. Chonchaiya, W., Tassone, F., Ashwood, P., Hessl, D., Schneider, A., Campos, L., et al. (2010). Autoimmune disease in mothers with the FMR1 premutation is associated with seizures in their children with fragile X syndrome. Human Genetics, 128, 539-548.
  7. Muddashetty, R. S., Nalavadi, V. C., Gross, C., Yao, X., Xing, L., Laur, O., et al. (2011). Reversible inhibition of PSD-95 mRNA translation by miR-125a, FMRP phosphorylation, and mGluR signaling. Molecular Cell, 42, 673-688.
  8. Gross, C., Nakamoto, M., Yao, X., Chan, C. B., Yim, S. Y., Ye, K., et al. (2010). Excess phosphoinositide 3-kinase subunit synthesis and activity as a novel therapeutic agent in fragile X syndrome. Journal of Neuroscience, 30, 10624-10638.


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