The SHANK2 gene, located on the 11th chromosome in location 13 (11q13), provides the genetic code to produce SHANK2 protein. This protein is essential for proper brain function because it helps transmit messages from one brain cell (neuron) to another. When an error occurs in the gene, there is either too little or no SHANK2 protein available, which causes a loss of function.
Individuals with errors in their SHANK2 genes may be affected by:
Pathogenic SHANK2 variants are extraordinarily rare in the general population but are estimated to occur in between 0.15% and 0.3% of all individuals diagnosed with autism spectrum disorder.
There is currently no treatment specific to SHANK2 disorders. However, treatments designed to address particular symptoms may improve the quality of life for an affected individual. Examples of treatments include applied behavioral analysis (ABA) therapy to improve behavior and augment learning, occupational therapy to enhance gross and fine motor skills, and medications prescribed to alleviate symptoms such as perseverative behavior (uncontrolled repetition) and ADHD.