Autism CNTNAP2 Gene and Its Functions

Autism is a typical widespread disorder that usually appears by the age of three in a child. Autism is characterized by very little or no verbal communication, a lack of social engagement and responsiveness, and the presence of repetitive ritual activities. Autism spectrum disorders are a broad phenotype, including the well-known Asperger’s syndrome (the only case of a child without mental retardation). Autism spectrum disorders also include people who have specific symptoms of autism, in which case the CNTNAP2 gene mutation has not been completed. Typically, children with a mutated CNTNAP2 gene are born to parents who may have had a lax diagnosis of autism.

The CNTNAP2 gene is expressed in the cerebral cortex, superior temporal gyrus, and dorsal thalamus, caudate, shell, and amygdala. Scientists have noticed that the CNTNAP2 gene is vividly expressed not in humans but in rodents, especially if the developing brain is considered in the experiment (OMIM – Online Mendelian Inheritance in Man, 2021). However, considering the functions of the CNTNAP2 gene is essential since the cerebral cortex is responsible for cortical functions, including speech and language. Experimentally, the deterioration of this function is easy to check and trace.

Changes in the gene in question can be observed even at 18-22 weeks of pregnancy. With autism or a predisposition to autism, low expression of the CNTNAP2 gene will be recorded, which subsequently will cause the repetition of meaningless words. It coincides with the speech delay of children with autism because the triad of autism symptoms includes a violation of the speech apparatus, weak vocabulary, and repetition. The FOXP2 gene similarly demonstrates itself, mutations that also affect speech development; this gene is also expressed in the cerebral cortex. Thus, the CNTNAP2 gene is mainly expressed in the cerebral cortex and is responsible for speech. Disorders and mutations of this gene lead to a deterioration in the speech apparatus and social skills.


OMIM – Online Mendelian Inheritance in Man. (2021). Web.

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