De novo variants in the NAV2 gene, including two missense variants and a synonymous variant predicted in PMID 26938441 to affect splicing regulation by altering an exonic splicing regulator, have been observed in ASD probands (Sanders et al., 2012; O'Roak et al., 2012; Iossifov et al., 2014). Evaluation of the statistical significance of observing multiple functional de novo variants in this gene, taking into account gene length and local sequence context to determine the expected number of variants, generated a p-value of 1.78E-02 (Takata et al., 2016).
This gene encodes a member of the neuron navigator gene family, which may play a role in cellular growth and migration. The protein encoded by the NAV2 gene possesses 3' to 5' helicase activity and exonuclease activity and is involved in neuronal development, specifically in the development of different sensory organs.
Type of Disorder
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.