Many studies have traced the history of families with more than one autistic member, but few scientists have attempted to crack the code of sporadic autism—which arises unexpectedly in a formerly unaffected lineage and is more common than inherited autism. Now a group at Cold Spring Harbor Laboratory believes it has found a distinct mechanism by which autism can strike sporadically.

Led by Jonathan Sebat and Michael Wigler, the team examined the entire genomes of more than 150 families with at least one autistic member. They scanned for new genetic muta­tions, comparing any findings with parental DNA to assure the variation was not inherited and therefore truly sporadic.

This article was originally published with the title The Genetic Roots of Autism.

1 Comments

1. 1. mitcoyote 12:59 AM 1/17/08

   Seems to me that the Hardy-Weinberg Law lies at the center of the "puzzle." If, in males, autism is a recessive trait, then H-W predicts that the prevalence stays constant, even if those affected don't breed. Why is this a puzzle?

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