What does Cntnap2 reveal about autism spectrum disorder?

Cntnap2 mutant mice show deficits in the three core domains of ASD: reduced vocal communication, repetitive and restrictive behaviors, and abnormal social interactions. In addition, they show hyperactivity and epileptic seizures [41], both features described in CDFE patients.

What does the SHANK3 gene do?

The SHANK3 gene provides instructions for making a protein that is found in many of the body’s tissues but is most abundant in the brain. The SHANK3 protein plays a role in the functioning of synapses, which are the connections between nerve cells (neurons) where cell-to-cell communication occurs.

What is the most common genetic cause of ASDS?

Within individuals on the autism spectrum, 1-3% of them have Fragile X syndrome, making it the most common syndromic form of ASD. Changes in the FMR1 gene cause Fragile X syndrome.

What is SHANK3 autism?

SHANK3 is a leading autism candidate gene, with mutations occurring in between 1 and 2 percent of individuals with autism spectrum disorders. SHANK3 encodes a protein that is essential for proper functioning of the synapse, the junction between neurons.

What is Phelan McDermid Syndrome?

Phelan-McDermid syndrome (PMS) is a rare genetic condition that causes developmental and speech delays, behavioral problems and a weakened or no ability to feel pain or sweat. Phelan-McDermid syndrome is a congenital condition (condition that is present at birth) that can affect people of all genders.

What genetic disorders mimic autism?

The conditions listed below all exhibit similar behavioral symptoms to autism spectrum disorder. Behavioral treatments for these conditions overlap with those of autism. However, treatments should always be informed by diagnosis….

  • Prader-Willi Syndrome.
  • Angelman Syndrome.
  • Rett Syndrome.
  • Tardive Dyskinesia.

What does SHANK3 stand for?

SH3 and multiple ankyrin repeat domains 3 (Shank3), also known as proline-rich synapse-associated protein 2 (ProSAP2), is a protein that in humans is encoded by the SHANK3 gene on chromosome 22. Additional isoforms have been described for this gene but they have not yet been experimentally verified.