[5][6] SHANK1 has been shown to interact with: SHANK1 is a scaffold protein that plays a critical role in the formation and maintenance of excitatory synapses in the brain.

ASD, also known as "autism spectrum disorders", is identified as a group of conditions which cause characteristics in the human brain that lead to impairments.

The objective of the study was to provide more context and analyze the specific protein, SHANK1, as a focal point for male ASD development caused by deletion, microdeletion, and/or mutation.

A laboratory test was run in order to identify the gene in the individuals using SYBR-Green-based real-time quantitative PCR (qPCR).

In addition to SHANK1 being found to have developing ASD in males with the genetic deletion, the inheritance of the gene was also encountered from the chromosome of the studied individual which originated from the mother.

Researchers found that an unrelated ASD-affected male carrying an independent de novo deletion of SHANK1, supports the interpretation that the SHANK1 CNV segregating in family 1 is in fact the primary etiologic event which leads to the individual presenting ASD.

Having tested and trusted evidence as to the origin of ASD is crucial as more and more people are diagnosed and the field of resources for these individuals continues to grow.