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Bedoyan, J.K., Kumar, R.A., Sudi, J., Silverstein, F., Ackley, T., Iyer, R.K., Christian, S.L. and Martin, D.M. (2010) Duplication 16p11.2 in a child with infantile seizure disorder. American Journal of Medical Genetics Part A, 152A, 1567-1574.

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• TITLE: 16p11.2 is required for neuronal polarity

  AUTHORS: Zhi Li, Xi He, Jiexiong Feng

  KEYWORDS: Neuronal Polarity; 16p11.2; Autism; Epilepsy; Neuronal Development

  JOURNAL NAME: World Journal of Neuroscience, Vol.3 No.4, September 11, 2013

  ABSTRACT: Since Autism Spectrum Disorder (ASD) is strongly associated with chromosomal abnormalities of 16p11.2, and Autism has been linked to neuronal polarity defect, our study aimed to explore the role of 16p11.2 genes in regulating neuronal polarity. We performed a neuronal polarity assay in a high throughput manner for candidate genes at 16p11.2. Our most interesting finding was that three 16p11.2 candidate genes, DOC2a, Tbx-6 and KIF 22, affected neuronal polarity. Our research, for the first time, indicates a novel association between 16p11.2 and neuronal polarity. Our results support the hypothesis that 16p11.2 is required for neuronal polarity. Our research provides new important insights into molecular mechanisms underlying the tight association between 16p11.2 and several neural developmental disorders, including autism, epilepsy, mental retardation and schizophrenia.