Hidden genetic defects contain a real risk of serious disease

For the first time, researchers from the Hebrew University of Jerusalem, Radbodomk and Maastricht UMC + and international colleagues gained insight into the “hidden genetic defects” of the European population at large. This is important because these defects, if inherited from the father and mother, can lead to all kinds of diseases in their children. Research on Dutch and Estonian populations shows that each person has 2 to 4 of these hidden genetic defects. In 1 in 100 couples, this leads to a situation with an increased risk of developing a genetic disease for the children in the future. In the case of kinship, it appears that 20% of couples are at high risk. This research was published in American Journal of Human Genetics And the Genetics in medicine.

Each person’s genes are half mum and half father genes. So you have two copies of each gene. Sometimes one of these copies is defective, without making you sick because the other gene is still working properly. In this case we call it an “hidden genetic defect” (in scientific terms: an autosomal recessive gene). Such an invisible genetic defect can cause problems if the child inherits the same hidden defect, the same mutated gene, from the father and mother. Both parents are healthy and have no hidden genetic defect. But when these two hidden genetic defects (mother and father) meet in the child, the disease manifests itself.

Hidden defects are on the horizon

It is not clear how often such hidden genetic defects occur in the general population. By screening all the genes of nearly 6,500 people in the Dutch and Estonian populations, researchers from Radboudumc and Maastricht UMC + have now gained insight into how often such subtle defects that can lead to disease appear in one individual. Christian Gillesen, researcher at Radboudumc: “It appears that every human being has an average of 2 to 4 of these hidden genetic defects. So the probability that a European couple will be at risk of having a sick child due to two such defects is about 1 percent. The risk increases. In close relatives, about sixteen percent of husbands are at high risk, with an increased risk of developing skeletal disorders or intellectual disabilities.

High kinship risk

In addition to this research published in American Journal of Human Genetics, The research was also conducted in the clinical practice of the hospital under the coordination of Maastricht UMC +, together with Radboudumc and Amsterdam UMC. This study was published in Genetics in medicine, Addresses the issue of determining the risks of hidden genetic defects in cousin relationships before the desired pregnancy. Clinical molecular geneticist Amy Bollossen of UMC + University of Maastricht: “We identified the risk in 100 close relatives. It was found that about 20 percent of these couples had an increased risk of developing serious disorders in their offspring through these hidden genetic defects. Clinical practice data already exist in the above-mentioned population study. “

Values ​​test

Professor Han Brunner, Head of the Department of Clinical Genetics in Maastricht as well as the Department of Genetics in Nijmegen, are involved in both studies. He considers them a clear incentive to make genetic testing available to couples who have potentially increased risks due to these hidden genetic defects: “Certainly for these couples, this information can help them make an informed decision when starting a family. They can consider pre-implantation diagnostics and IVF to allow embryos to be selected without These defects. ”


* The paper was published in American Journal of Human Genetics: View of recessive genotypic pathogenic variants in European populations reveals phenotype-specific effects – Heila Friedman, Hilger J Yentema, Riddick Maggie, Riddar Anderson, Andres Mitzpalou, Massimo Mizavilla, Chris Tyler Smith, Yali Xue, Vine Tea, Efrat Levi Lahd, Christian Gilleson, Han G. Brunner

* The paper was published in Genetics in medicine: Diagnostic exome-based pre-carrier test in inbreeding couples: results from the first 100 pairs in clinical practice – Susan C.H.Salfelt, Alexander PA Stegman, Bart de Koning, Kroll Filter, Anya Stiles, Melanie Van Esch, Felice Lachman, Hilger Yantema Masoud Zamani Esteki, Christine MD De Smulders, Christian Gillesen, Arthur Van Den Wiegengard, Han J. Brunner, Aimee DC Polussen

https: //www.prison cell.Com /ajhg /Full text /S0002-9297 (21) 00088-4
http: // dx.Resonate.Deer /10.1016 /J.ajhg.2021.03.004

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