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Tiny, Spontaneous Gene Mutations May Boost Autism Risk

 
  March, 26 2007 15:50
your information resource in human molecular genetics
 
     
Tiny gene mutations, each individually rare, pose more risk for autism than had been previously thought, suggests a study funded in part by the National Institute of Mental Health, a component of the National Institutes of Health.

These spontaneous deletions and duplications of genetic material were found to be ten times more prevalent in sporadic cases of autism spectrum disorders (Autism Menu) than in healthy control subjects -- but only twice as prevalent in autism cases from families with more than one affected member. The results implicate the anomalies as primary, rather than just contributory, causes of the disorder in most cases when they are present, according to the researchers. Although they might share similar symptoms, different cases of autism could thus be traceable to any of 100 or more genes, alone or in combination.

Drs. Jonathan Sebat, Michael Wigler, Cold Spring Harbor Laboratory (CSHL), and 30 colleagues from several institutions, report on their discovery online, March 16, 2007 in Science Express.

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