This report describes autism spectrum disorder, susceptibility to, 16 (AUTS16). The human gene implicated in this form of autism is SLC9A9, which encodes a sodium/proton exchanger that is a member of the solute carrier 9 protein family. See the report for 'autism spectrum disorder, susceptibility to, SLC9A6,9-related' (FBhh0001048) for information on a Drosophila model of autism using the fly ortholog of SLC9A9.
[updated Nov. 2020 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, 16; AUTS16](https://omim.org/entry/613410)
[SOLUTE CARRIER FAMILY 9 (SODIUM/HYDROGEN EXCHANGER), MEMBER 9; SLC9A9](https://omim.org/entry/608396)
Susceptibility to autism-16 (AUTS16) is associated with heterozygous mutation in the SLC9A9 gene [from MIM:613410; 2020.11.05]