This morning's session at the Keystone meeting on the pathophysiology of autism in Santa Fe, New Mexico, focused on the disorder's link to Fragile X syndrome. Like autism, Fragile X is associated with behaviors such as high social anxiety, gaze avoidance, and speech problems. A significant number of people with Fragile X - estimates range wildly from 5 to 60% - have autism, but a smaller number of linkurl:autistic cases are associated with Fragile X;http://www.the-scientist.com/article/display/15820/ (maybe on the order of 4% of or so). David Nelson from Baylor College of Medicine in Texas posed an interesting question: Why don't all Fragile X patients have autism? Are there stochastic, developmental, genetic modifiers? His group has tried to answer that question. Fragile X syndrome results from a mutation in the FMR1, or fragile X mental retardation gene, which encodes the FMRP protein. But in most patients, this mutation is mosaic, leading his...
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