Characteristics and clinical features:
SHANK3 is one of the genes most commonly linked to autism. Nearly 1 percent of people with autism have changes in this gene. In people with both autism and intellectual disability, that figure rises to about 2 percent. Genetic differences in SHANK3 are also referred to as Phelan-McDermid syndrome. People with this syndrome often have low muscle tone and difficulty eating, as well as learning disabilities and speech problems.
SHANK3 helps make the connections between neurons. Disrupting the gene may impair these connections. Genetic changes in SHANK3 can vary – some are subtle, and some wipe out the gene completely. Scientists have created mice with different types of SHANK3 mutations, which help them study the gene’s function and how disruption of the gene might lead to autism. Most SHANK3 mutations are de novo, meaning that the individual’s parents do not carry the mutation.
SHANK3 was first linked to autism in 2007. Since then, more than 1,000 individuals with SHANK3 changes have been identified.
News stories on SHANK3 from Spectrum:
- SHANK3 mutations turn up in high proportion of autism cases
- SHANK mutations converge at neuronal junctions in autism
- Mice with faulty SHANK3 mimic autism features in people
Spectrum provides comprehensive news and analysis of advances in autism research. Funding for Spectrum comes from the Simons Foundation Autism Research Initiative (SFARI), but the team is editorially independent.