Studies have found rare mutations in the TSPAN7 gene that are associated with autism (e.g. Piton et al., 2011), although one of these found that a TSPAN7 duplication did not disrupt gene expression and so likely was not the cause for the disease (they also found no other variants in their screening of other autistic patients) (Noor et al., 2009). In addition, studies have found rare variants in TSPAN7 that are associated with mental retardation.
A cell surface glycoprotein with a role in the control of neurite outgrowth
Type of Disorder
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.