Current developments in the genetics of autism: from phenome to genome

Abstract

Despite compelling evidence from twin and family studies indicating a strong genetic involvement in the etiology of autism, the unequivocal detection of autism susceptibility genes remains an elusive goal. The purpose of this review is to evaluate the current state of autism genetics research, with attention focused on new techniques and analytic approaches. We first present a brief overview of evidence for the genetic basis of autism, followed by an appraisal of linkage and candidate gene study findings and consideration of new analytic approaches to the study of complex psychiatric conditions, namely, genome-wide association studies, assessment of structural variation within the genome, and the incorporation of endophenotypes in genetic analysis.

FIGURE 1

Summary of genome-wide linkage scans in autism with LOD/equivalents plotted. Red indicates LOD ≥3, dark gray indicates LOD ≥2, and light gray indicates LOD ≥1.5. First author and year of publication for each study are listed. AS, Asperger syndrome; BAP, broad autism phenotype; Chr, chromosome; NQA, not quite autism (diagnostic criteria not fully met).