Autism genetics: Methodological issues and experimental design

Roberto Sacco, Carla Lintas, Antonio M. Persico

Research output: Contribution to journalArticlepeer-review


Autism is a complex neuropsychiatric disorder of developmental origin, where multiple genetic and environmental factors likely interact resulting in a clinical continuum between “affected” and “unaffected” individuals in the general population. During the last two decades, relevant progress has been made in identifying chromosomal regions and genes in linkage or association with autism, but no single gene has emerged as a major cause of disease in a large number of patients. The purpose of this paper is to discuss specific methodological issues and experimental strategies in autism genetic research, based on fourteen years of experience in patient recruitment and association studies of autism spectrum disorder in Italy.

Original languageEnglish
Pages (from-to)946-957
Number of pages12
JournalScience China Life Sciences
Issue number10
Publication statusPublished - Sep 2 2015


  • autistic disorder
  • endophenotype
  • genetic association
  • genetics
  • pervasive developmental disorders

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Environmental Science(all)


Dive into the research topics of 'Autism genetics: Methodological issues and experimental design'. Together they form a unique fingerprint.

Cite this