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Disruption of contactin 4 in three subjects with autism spectrum disorder.

BACKGROUND: Autism spectrum disorder (ASD) is a developmental disorder of the central nervous system of largely unknown aetiology. The prevalence of the syndrome underscores the need for biological markers and a clearer understanding of pathogenesis. For these reasons, a genetic study of idiopathic ASD was undertaken. METHODS AND RESULTS: Array based comparative genomic hybridisation identified a paternally inherited chromosome 3 copy number variation (CNV) in three SUBJECTS: a deletion in two siblings and a duplication in a third, unrelated individual. These variations were fluorescence in situ hybridisation (FISH) validated and the end points further delineated using a custom fine tiling oligonucleotide array. Polymerase chain reaction (PCR) products unique to the rearrangements were amplified and sequence analysis revealed the variations to have resulted from Alu Y mediated unequal recombinations interrupting contactin 4 (CNTN4). CONCLUSION: CNTN4 plays an essential role in the formation, maintenance, and plasticity of neuronal networks. Disruption of this gene is known to cause developmental delay and mental retardation. This report suggests that mutations affecting CNTN4 function may be relevant to ASD pathogenesis.

Pubmed ID: 18349135


  • Roohi J
  • Montagna C
  • Tegay DH
  • Palmer LE
  • DeVincent C
  • Pomeroy JC
  • Christian SL
  • Nowak N
  • Hatchwell E


Journal of medical genetics

Publication Data

March 2, 2009

Associated Grants

  • Agency: NCI NIH HHS, Id: CA016056
  • Agency: NCRR NIH HHS, Id: M01RR10710
  • Agency: NINDS NIH HHS, Id: R01 NS51812

Mesh Terms

  • Adolescent
  • Alu Elements
  • Autistic Disorder
  • Cell Adhesion Molecules, Neuronal
  • Child
  • Chromosomes, Human, Pair 3
  • Comparative Genomic Hybridization
  • Contactins
  • Female
  • Gene Deletion
  • Gene Dosage
  • Gene Duplication
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Male
  • Oligonucleotide Array Sequence Analysis
  • Polymerase Chain Reaction
  • Young Adult