J Med Genet 46:1-8 doi:10.1136/jmg.2008.060871
  • Review

Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist

Open Access
  1. C Lintas,
  2. A M Persico
  1. Laboratory of Molecular Psychiatry & Neurogenetics, University Campus Bio-Medico, Rome, Italy and Department of Experimental Neurosciences, IRCCS. “Fondazione Santa Lucia”, Rome, Italy
  1. Dr A M Persico, Laboratory of Molecular Psychiatry and Neurogenetics, University “Campus Bio-Medico”, Via Alvaro del Portillo 21, I-00128 Rome, Italy; a.persico{at}
  • Received 6 June 2008
  • Revised 4 July 2008
  • Accepted 8 July 2008
  • Published Online First 26 August 2008


Autism spectrum disorders represent a group of developmental disorders with strong genetic underpinnings. Several cytogenetic abnormalities or de novo mutations able to cause autism have recently been uncovered. In this study, the literature was reviewed to highlight genotype–phenotype correlations between causal gene mutations or cytogenetic abnormalities and behavioural or morphological phenotypes. Based on this information, a set of practical guidelines is proposed to help clinical geneticists pursue targeted genetic testing for patients with autism whose clinical phenotype is suggestive of a specific genetic or genomic aetiology.


  • Competing interests: None declared.