PT  - JOURNAL ARTICLE
AU  - J Roohi
AU  - C Montagna
AU  - D H Tegay
AU  - L E Palmer
AU  - C DeVincent
AU  - J C Pomeroy
AU  - S L Christian
AU  - N Nowak
AU  - E Hatchwell
TI  - Disruption of contactin 4 in three subjects with autism spectrum disorder
AID  - 10.1136/jmg.2008.057505
DP  - 2009 Mar 01
TA  - Journal of Medical Genetics
PG  - 176--182
VI  - 46
IP  - 3
4099  - http://jmg.bmj.com/content/46/3/176.short
4100  - http://jmg.bmj.com/content/46/3/176.full
SO  - J Med Genet2009 Mar 01; 46
AB  - 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.