18 September 2019

The autism gene exists

Sperm donor passed the disease to 12 children

Sergey Kolenov, Hi-tech+

The causes of autism are not fully understood. However, an unpleasant and unusual case, which tells The Washington Post, makes you think about the existence of the "autism gene".

The main character of this story, a resident of Illinois Danielle Rizzo, is raising two children with autism, conceived from one sperm donor. While searching for information about the treatment of this disease, she discovered that other mothers who used the sperm of this donor also had children with autism. In total, an anonymous donor fathered at least 12 children with this feature.

According to scientists, in most cases it is impossible to talk about individual "autism genes". According to available estimates, there are hundreds of genetic variants associated with autism spectrum disorders.

Usually they only increase the risk of autism, but do not cause its development. In addition to heredity, the probability of the disease is influenced by the age of the parents and environmental factors.

However, 2-4% of autism cases are directly determined by specific mutations. A study of Rizzo's children showed that an anonymous donor passed on two to his descendants – in the MBD1 and SHANK1 genes. Although reproductive clinics check potential donors for hereditary diseases, there are no genetic tests for autism.

Rizzo sued the reproductive clinic, stating in the lawsuit that false information was provided in the donor's profile. It was not possible to accuse the hospital of not checking for "autism genes", but the woman was still able to sue for $250,000. She discovered that there was no information about the diagnosis of ADHD in the donor's profile and there were incorrect data on higher education.

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