New mutations in any of 100 or more genes may be related to sporadic cases of autism, according to findings by a multi-institution team of researchers (Sebat J et al. Science. doi:10.1126/science.1138659 [published online March 15, 2007]).
Genetic analyses were used to detect differences in copy number variants (deletions or duplications of large segments of DNA) between children and their parents in 118 families with a single case of autism and 47 families with multiple cases. About 10% of children with sporadic autism had new copy number variants in any of a wide variety of genes, compared with just 2% of patients with familial autism and 1% of 99 controls.
The findings suggest that many different genetic defects may contribute to autism and that familial and sporadic cases have distinct genetic causes. The authors suggest that such common features of autism as failure to develop social . . . [Full Text of this Article]
