Autism spectrum disorders: molecular genetic advances

Am J Med Genet C Semin Med Genet. 2006 Feb 15;142C(1):13-23. doi: 10.1002/ajmg.c.30078.

Abstract

Despite the strong genetic basis of autism spectrum disorders (ASD), research efforts in the last decade have not been successful in the identification of confirmed susceptibility genes. We review the present status of genetic linkage, candidate gene, and association studies, pointing out the limitations of these approaches and the challenge of dealing with the clinical and genetic complexity of autism. Finally, we outline how recent technological and bioinformatic advances, together with an increasing understanding of the structure of the human genome, have set the stage to perform more comprehensive and well powered studies, possibly leading to a turning point in the understanding of the genetic basis of this devastating disorder.

Publication types

  • Review

MeSH terms

  • Child
  • Child Development Disorders, Pervasive / genetics*
  • Chromosome Aberrations*
  • Cytogenetic Analysis / methods
  • Genes
  • Genetic Linkage*
  • Genetic Predisposition to Disease*
  • Humans
  • Polymorphism, Single Nucleotide