The discovery of a new de novo mutation could lead to better treatment: study

Washington DC. [USA], June 16 (ANI): A recent study has shown that developmental disorders affect certain human skills such as attention, memory, language, and social interactions.

The study was discussed at a meeting "Annual Conference of the European Society of Human Genetics", Gothenburg, Sweden.

Although many developmental disorders have been identified in recent years, many more remain to be discovered.

In this study, researchers badyzed genomic data from more than 31,000 parent-child trios from the Deciphering Developmental Disorders project.

The badysis of these trios revealed more than 45,000 de novo mutations (DNM). They developed an improved method to test the enrichment (overrepresentation) of damaging DNM in individual genes.

Kaplanis, one of the researchers, said, "We found 307 significantly enriched genes, including 49 new ones, with all of these genes we were able to explain about 51% of the DNM load in our dataset, and then we modeled different underlying genetic scenarios to get an idea of ​​the remaining de novo burden and how we can find it. "About 40% of developmental disorders are caused by MNDs, which equates to about one in 295 births in the United Kingdom. United. The prevalence of the disease increases with the age of the parents.

The disorders usually become visible during childhood and include serious diseases such as Autism Spectrum Disorder, Attention Deficit Hyperactivity Disorder (ADHD), Intellectual Disability and Rett's Syndrome. .

It may be expected that DNMs in genes that have not yet been discovered are less penetrating, ie, they present the symptoms in fewer people.

"We may need to adapt our gene discovery system to capture these less penetrating genes," Kaplanis said.

The researchers also hope to increase the size of their sample to detect more and more genes badociated with developmental disorders.

However, the identification of 40 new genes is already providing valuable information to clinicians and drug developers.

Professor Joris Veltman, one of the principal investigators of the study, said, "Developmental delays are often caused by new mutations occurring during the formation of sperm or eggs." "By combining data on new mutations identified in the DNA of more than 30,000 patients, scientists could implicate 49 new genes in developmental delays." This study demonstrates the power of international collaboration to large scale to advance our understanding of this disorder and improve the diagnosis and management of patients, "added Professor Veltman. (ANI)