This report describes autism spectrum disorder, susceptibility to, X-linked 1 (AUTSX1), one of several forms of autism for which a neuroligin gene is implicated, in this case NLGN3. For additional information about fly models of autism related to neuroligin, see 'autism spectrum disorder, susceptibility to, NLGN-related' (FBhh0000517).
Experiments in flies include characterization of a mutation in a fly neuroligin gene analogous to an NLGN3 variant associated with autism in human. Variant(s) implicated in human disease tested (as analogous mutation in fly gene): R598C in the fly Nlg2 gene (corresponds to R471C in the human NLGN3 gene; also described as R451C).
[updated May 2022 by FlyBase; FBrf0222196]
Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996, pubmed:8655659; Risch et al., 1999, pubmed:10417292). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (MIM:608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008; pubmed:18698615). [from MIM:209850; 2017.03.18]
[AUTISM, SUSCEPTIBILITY TO, X-LINKED 1; AUTSX1](https://omim.org/entry/300425)
[NEUROLIGIN 3; NLGN3](https://omim.org/entry/300336)
X-linked autism-1 (AUTSX1) is associated with mutation in the neuroligin-3 (NLGN3) gene. [from MIM:300425; 2017.03.18]
Neuroligins function as ligands for the neurexins, which are cell-surface receptors. The Ca(2+)-dependent neurexin/neuroligin complex is present at synapses in the central nervous system, is required for efficient neurotransmission, and is involved in the formation of synaptic contacts (summary by Reissner et al., 2008; pubmed:18812509). [from MIM:600568; 2017.03.18]
Many to many; multiple genes in both species. In humans, NLGN3 and NLGN4X have been implicated in autism spectrum disorder.
Moderate-scoring ortholog of human NLGN1, NLGN3 and NLGN4X (multiple genes in both species).
