Advances in autism genetics: on the threshold of a new neurobiology

作者:Abrahams Brett S*; Geschwind Daniel H
来源:Nature Reviews Genetics, 2008, 9(5): 341-355.
DOI:10.1038/nrg2346

摘要

Autism is a heterogeneous syndrome defined by impairments in three core domains: social interaction, language and range of interests. Recent work has led to the identification of several autism susceptibility genes and an increased appreciation of the contribution of de novo and inherited copy number variation. Promising strategies are also being applied to identify common genetic risk variants. Systems biology approaches, including array-based expression profiling, are poised to provide additional insights into this group of disorders, in which heterogeneity, both genetic and phenotypic, is emerging as a dominant theme.

  • 出版日期2008-5