Discovery of new De novo mutation may lead to better treatment

It has been found in a recent study that developmental disorders affect certain skills of humans like attention, memory, language, and social interaction.

Although many new developmental disorders have been identified in recent years, there are many more which are left undiscovered.

In this study, the researchers analyzed genomic data from over 31,000 parent-child trios obtained from the UK's Deciphering Developmental Disorders Project.

Analysis of these trios yielded more than 45,000 'de novo' mutation (DNMs). They developed an improved method to test for the enrichment (over-representation) of damaging DNMs in individual genes.
 
One of the researchers, said: "We found 307 significantly enriched genes, 49 of which are novel. With all of these genes, we were able to explain about 51 per cent of the DNM burden in our dataset. We then modeled different underlying genetic scenarios to get an idea of where the remaining de novo burden lies and how we can go about finding it."

About 40 per cent of developmental disorders is caused by DNMs, equivalent to about one birth in every 295 in the UK alone. The prevalence of the disease increases with the age of the parents.

The disorders usually become visible during childhood and include severe diseases such as autism spectrum disorder, attention deficit hyperactivity disorder (ADHD), intellectual disability, and Rett syndrome.

A possible expectation is that the DNMs in the genes which are as yet undiscovered are less penetrant, i.e., they present symptoms in fewer people.

"We may need to adapt our system of gene discovery in order to capture these fewer penetrant genes," said a researcher.

The researchers also hope to increase their sample size in order to try to detect ever more genes associated with developmental disorders.

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

One of the lead researchers of the study, said: "Developmental delay is often caused by new mutations arising during the formation of sperm or eggs."

"By combining data on new mutations identified in the DNA of more than 30,000 patients, the scientists could implicate a role for 49 new genes in developmental delay."

"This study shows the power of large-scale international collaboration to advance our understanding of this disorder and improve diagnostics as well as patient management," added the Prof. 

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Fifteen genes behind intellectual disabilities identified

Scientists have discovered 15 gene mutation that can cause intellectual disabilities, a study has found.
 
Intellectual disabilities are often caused by a mutation that damages a gene, preventing the associated protein from functioning properly.

However, a mutation can also change the function of a gene. As a result, the gene in question acts in a completely different way.

Researchers discovered this mechanism in fifteen genes playing a role in the development of intellectual disabilities.

Genes are responsible for protein production in cells. A common cause of intellectual disabilities is a de novo mutation (ie a mutation present in a child, but not in its parents) damaging a gene so severely that it is no longer able to produce functional proteins.

The resulting protein defect will cause illness. In a number of disease-related genes, it is shown that a de novo mutation does not eliminate the gene, but probably alters its function. These mutations are only located on specific parts of the gene.

In order to find out how often this mechanism is involved, researchers combined the gene mutations in patients with a large international database comprising de novo mutations in patients.

"With our method, we were able to detect genes in which mutations not so much eliminate as affect the gene in another way," said  the researcher.

"We found fifteen genes in which mutations cluster closely together, twelve of which being associated with developmental disorders," said the researcher.

"We also found three new genes that are likely to play a role in the development of intellectual disabilities as well," he said.

The de novo mutations that were found only change a very small part of a protein. The function of the protein remains largely, but not entirely the same.

"The mutations are more likely to affect superficial parts of the proteins. These disturb interactions with other proteins and cause problems," he said.

"Although mutations eliminating genes were often thought to be the main cause of intellectual disabilities, mutations altering the function of genes are now shown to be an important factor as well," he said.

The three newly-discovered genes playing a role in the development of intellectual disabilities provide new diagnostic possibilities for patients.

"It is important that we have discovered a mechanism that has not yet been a focus of study. We expect this mechanism to play a role in a much larger proportion of patients with intellectual disabilities," he said.

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