Disruption of contactin 4 in autism spectrum disorder
Author Information
Author(s): Roohi J, Montagna C, Tegay D H, Palmer L E, DeVincent C, Pomeroy J C, Christian S L, Nowak N, Hatchwell E
Primary Institution: Stony Brook University
Hypothesis
Can genetic variations in contactin 4 (CNTN4) contribute to the pathogenesis of autism spectrum disorder (ASD)?
Conclusion
Mutations affecting CNTN4 function may be relevant to the pathogenesis of ASD.
Supporting Evidence
- The study identified paternally inherited copy number variations in three individuals with ASD.
- The CNVs affected the CNTN4 gene, which is important for brain development.
- Molecular analysis revealed that the CNVs resulted from Alu Y mediated unequal recombination.
Takeaway
Some kids with autism have changes in a gene called CNTN4, which helps brain cells connect. These changes might be linked to their autism.
Methodology
The study used array-based comparative genomic hybridization to identify copy number variations in subjects with ASD.
Limitations
The study's findings need further confirmation in larger cohorts.
Participant Demographics
Participants included 92 subjects with ASD from 81 different families, with a mix of ages and backgrounds.
Statistical Information
P-Value
0.016
Statistical Significance
p=0.016
Digital Object Identifier (DOI)
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