Disruption of contactin 4 in three subjects with autism spectrum disorder

J. Roohi, Cristina Montagna, D. H. Tegay, L. E. Palmer, C. DeVincent, J. C. Pomeroy, S. L. Christian, N. Nowak, E. Hatchwell

Research output: Contribution to journalArticle

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Abstract

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.

Original languageEnglish (US)
Pages (from-to)176-182
Number of pages7
JournalJournal of Medical Genetics
Volume46
Issue number3
DOIs
StatePublished - Mar 2009

Fingerprint

Contactins
Neuronal Plasticity
Chromosomes, Human, Pair 3
Comparative Genomic Hybridization
Central Nervous System Diseases
Oligonucleotide Array Sequence Analysis
Fluorescence In Situ Hybridization
Intellectual Disability
Genetic Recombination
Sequence Analysis
Biomarkers
Maintenance
Polymerase Chain Reaction
Mutation
Genes
Autism Spectrum Disorder

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Roohi, J., Montagna, C., Tegay, D. H., Palmer, L. E., DeVincent, C., Pomeroy, J. C., ... Hatchwell, E. (2009). Disruption of contactin 4 in three subjects with autism spectrum disorder. Journal of Medical Genetics, 46(3), 176-182. https://doi.org/10.1136/jmg.2008.057505

Disruption of contactin 4 in three subjects with autism spectrum disorder. / Roohi, J.; Montagna, Cristina; Tegay, D. H.; Palmer, L. E.; DeVincent, C.; Pomeroy, J. C.; Christian, S. L.; Nowak, N.; Hatchwell, E.

In: Journal of Medical Genetics, Vol. 46, No. 3, 03.2009, p. 176-182.

Research output: Contribution to journalArticle

Roohi, J, Montagna, C, Tegay, DH, Palmer, LE, DeVincent, C, Pomeroy, JC, Christian, SL, Nowak, N & Hatchwell, E 2009, 'Disruption of contactin 4 in three subjects with autism spectrum disorder', Journal of Medical Genetics, vol. 46, no. 3, pp. 176-182. https://doi.org/10.1136/jmg.2008.057505
Roohi, J. ; Montagna, Cristina ; Tegay, D. H. ; Palmer, L. E. ; DeVincent, C. ; Pomeroy, J. C. ; Christian, S. L. ; Nowak, N. ; Hatchwell, E. / Disruption of contactin 4 in three subjects with autism spectrum disorder. In: Journal of Medical Genetics. 2009 ; Vol. 46, No. 3. pp. 176-182.
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