Clinical Significance To ASD
Neuroligin dysfunction has been implicated in Autistic spectrum disorders. Different genetic alterations have been detected in neuroligin genes in patients with ASD, including point mutations, missense mutations, and internal deletions. In studies done on family members with X-linked autism, specific mutations of NLGN 3 and NLGN 4 have been identified. These mutations have been shown to affect how neuroligins function and have been shown to interfere with synaptic transmission. 19 of the 69 known proteins mutated in X-linked autism encode postsynaptic proteins, Neuroligins included.
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