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What role of autism in Fragile X?

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/d

Alison McCook
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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