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Association of common variants in the Joubert syndrome gene (AHI1) with autism.

It has been suggested that autism, like other complex genetic disorders, may benefit from the study of rare or Mendelian variants associated with syndromic or non-syndromic forms of the disease. However, there are few examples in which common variation in genes causing a Mendelian neuropsychiatric disorder has been shown to contribute to disease susceptibility in an allied common condition. Joubert syndrome (JS) is a rare recessively inherited disorder, with mutations reported at several loci including the gene Abelson's Helper Integration 1 (AHI1). A significant proportion of patients with JS, in some studies up to 40%, have been diagnosed with autism spectrum disorder (ASD) and several linkage studies in ASD have nominally implicated the region on 6q where AHI1 resides. To evaluate AHI1 in ASD, we performed a three-stage analysis of AHI1 as an a priori candidate gene for autism. Re-sequencing was first used to screen AHI1, followed by two subsequent association studies, one limited and one covering the gene more completely, in Autism Genetic Resource Exchange (AGRE) families. In stage 3, we found evidence of an associated haplotype in AHI1 with ASD after correction for multiple comparisons, in a region of the gene that had been previously associated with schizophrenia. These data suggest a role for AHI1 in common disorders affecting human cognition and behavior.

Pubmed ID: 18782849

Authors

  • Alvarez Retuerto AI
  • Cantor RM
  • Gleeson JG
  • Ustaszewska A
  • Schackwitz WS
  • Pennacchio LA
  • Geschwind DH

Journal

Human molecular genetics

Publication Data

December 15, 2008

Associated Grants

  • Agency: NIMH NIH HHS, Id: MH081754
  • Agency: NIMH NIH HHS, Id: R01 MH64547
  • Agency: NINDS NIH HHS, Id: R01 NS052455
  • Agency: NIMH NIH HHS, Id: U54 MH068172

Mesh Terms

  • Adaptor Proteins, Signal Transducing
  • Autistic Disorder
  • Cerebellum
  • Child
  • Female
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Humans
  • Male
  • Polymorphism, Single Nucleotide
  • Schizophrenia
  • Syndrome