Have you heard of the SHANK3 gene?

The SHANK3 gene is one of the most studied genes in relation to autism. It is located on chromosome 22 and codes for a protein found in synapses (communication points between brain cells) and plays an important role in communication between brain cells. Mutations in the SHANK3 gene have been linked to a variety of autism spectrum disorders (ASDs), including high-functioning autism, pervasive developmental disorder not otherwise specified (PDDNS), and X-linked autism spectrum disorder (ASD). studies in animal models have shown that mutations in the SHANK3 gene can cause changes in synapse development and function, suggesting that these changes may contribute to autism symptoms. 

Other study published in 2013 in the American Journal of Human Genetics, discovered that mutations in the SHANK3 gene could cause a variety of autism symptoms, including delayed language development, difficulties with unusual social and behavioral skills.

A study published in 2017 in the journal Nature Communications, I research in the animal model in mice, found that mutations in the SHANK3 gene could cause changes in synapse development and function, suggesting that these changes could contribute to autism symptoms.

How can we know if our child is a carrier of a SHANK3 gene mutation?

Genetic analysis: it can be used to detect mutations in the SHANK3 gene using DNA sequencing. This test can be done on blood, tissue, or cultured cells.

Deletion/duplication screening test: it can be used to detect SHANK3 gene copy number changes. This test can be performed using fluorescent in situ hybridization (FISH) techniques or through a copy detection technique called CMA (Methylated Array Karyotype)

Prenatal diagnostic test: They can be done to detect mutations in the SHANK3 gene in the fetus during pregnancy. These tests include amniocentesis and villocentesis.

It is important to remember that these tests are to detect mutations in the SHANK3 gene and not to diagnose an associated disease, this must be evaluated by a health professional and a previous medical history and a complete genetic evaluation must be available.

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