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J Med Genet 2009;46:176-182 doi:10.1136/jmg.2008.057505
  • Letters to JMG

Disruption of contactin 4 in three subjects with autism spectrum disorder

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  1. J Roohi1,
  2. C Montagna2,
  3. D H Tegay3,4,
  4. L E Palmer5,
  5. C DeVincent3,
  6. J C Pomeroy3,
  7. S L Christian6,
  8. N Nowak7,
  9. E Hatchwell1,8
  1. 1
    Department of Genetics, Stony Brook University, Stony Brook, New York, USA
  2. 2
    Department of Pathology and Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, USA
  3. 3
    Department of Pediatrics, Stony Brook University Medical Center, Stony Brook, New York, USA
  4. 4
    Department of Medicine & Medical Genetics, New York College of Osteopathic Medicine, Old Westbury, New York, USA
  5. 5
    Department of Microbiology, Stony Brook University, Stony Brook, New York, USA
  6. 6
    Department of Human Genetics, The University of Chicago, Chicago, Illinois, USA
  7. 7
    Department of Cancer Prevention and Population Sciences, RPCI and New York State Center of Excellence in Bioinformatics and Life Sciences, University at Buffalo, New York, USA
  8. 8
    Department of Pathology, Stony Brook University, Stony Brook, New York, USA
  1. Dr E Hatchwell, Department of Pathology, BST-9, SUNY at Stony Brook, Stony Brook, NY 11794-8691, USA; eli.hatchwell{at}stonybrook.edu
  • Received 11 January 2008
  • Revised 14 February 2008
  • Accepted 19 February 2008
  • Published Online First 18 March 2008

Abstract

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.

Footnotes

  • Competing interests: None.

  • Patient consent: Obtained

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