IntroductionNeuroligins are postsynaptic cell‐adhesion proteins that play a functional role in regulation of excitatory and inhibitory synapses [Levinson & El‐Husseini, ; Hu, Luo, & Xu, ]. Alterations in NLGN3 and NLGN4 genes have been implicated in autism and intellectual disability [Jamain et al., ; Cao & Tabuchi, ]. Early autism genetic studies identified a missense mutation in NLGN3 resulting in an arginine to cysteine substitution at conserved amino acid position 451 in two brothers, one with severe autism and one with Asperger's syndrome, a milder form of autism [Jamain et al., ]. Heterogeneity involving the same genetic mutation raises an interesting question as to what may influence behavioral differences in two brothers with the same NL3R451C mutation. One explanation for phenotypic variability involving the same mutation is genetic heterogeneity [Hummel, Coleman, & Lane, ; Threadgill et al., ; Crawley, ; Gerlai, ]. While the mutation may be the same, the differences in a number of other genes can play a role in phenotypic variation.Phenotypic variation has also been observed in mouse models involving the NLGN3 gene mutation NL3R451C. Initial behavioral studies of mice harboring a NL3R451C mutation on a hybrid C57BL6J/129S2/SvPasCrl genetic background identified decreased social behavior and enhanced
Autism Research – Wiley
Published: Jan 1, 2018
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