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Scientists identify new neurodevelopmental disorders caused by genetic mutations

European Journal of Human Genetics (2020). DOI: 10.1038 / s41431-020-0589-9 “width =” 800 “height =” 530 “”/>

Figure 1: 3D crystal structure of human OGT with mapped variants. credit: European Journal of Human Genetics (2020). DOI: 10.1038 / s41431-020-0589-9

Researchers at the University of Dundee have helped discover new neurodevelopmental disorders caused by genetic mutations and explain why patients with these mutations suffer from this condition.

About 1% of the world’s population is affected by intellectual disabilities. This condition is characterized by significant restrictions on both intellectual function and adaptive behavior.

It was known that a molecule called GlcNAc was found in a protein associated with intellectual disability, but its exact role in the disease remained unclear.

The Dundee team has established that mutations in a gene called OGT can alter the mechanism of the GlcNAc molecule, which leads to neurodevelopmental disorders. In addition, they were able to identify patients with intellectual disabilities with OGT mutations and define the clinical and biochemical properties of these mutations.

Based on these findings, they brought together scientists and clinicians from around the world to identify features common to all patients known to have mutations in OGT. Using in vitro studies and clinical data, they identified a new class of intellectual disability known as OGT-related congenital glycosylation disorders (OGT-CDG).

This work was done in the laboratory of Daan van Aalten, a professor of biochemistry in the University’s Faculty of Life Sciences.

Scientists identify new neurodevelopmental disorders caused by genetic mutations

Figure 2: Photograph of a patient with a mutation in OGT. credit: European Journal of Human Genetics (2020). DOI: 10.1038 / s41431-020-0589-9

“Once a mutation is found in a gene, it is very important to identify if it has common features, because it makes it easier to diagnose and possibly treat patients,” said van Aalten.

“Our work allows clinicians to determine if a patient belongs to this subset of CDG. This is often difficult to identify. These mutations in OGT-CDG. Identifying the potential reasons for the connection can create a faster method for diagnosing these, providing the basis for patients and us to identify potential treatments.

“This is the first publication to classify OGT mutations as a syndrome from a family of congenital glycosylation disorders and name them OGT-CDG. CDG is a well-known cause of mutations in sugar group-binding enzymes. A group of diseases that have been affected.

“To do this, we work with other scientists and clinicians around the world to link the clinical manifestations of congenital OGT mutations and the potential for altered OGT to these symptoms. We have summarized what we know about the mechanism. We have made five hypotheses that can explain the links between OGTs. And IDs can be used to explore potential treatment strategies.

“We hope that this study will be a useful resource for clinical geneticists and scientists working in the field of intellectual disability who encounter patients with OGT mutations.”

To date, 23 patients diagnosed with OGT-CDG have 16 different congenital mutations in OGT. All these patients have IQs of less than 70 and are experiencing significant adaptive and behavioral problems.

Studies defining the new disease OGT-CDG are published in European Journal of Human Genetics..


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For more information:
Veronica M. Pravata et al. Intellectual disability syndrome with single nucleotide polymorphism of O-GlcNAc transferase, European Journal of Human Genetics (2020). DOI: 10.1038 / s41431-020-0589-9

Provided by University of Dundee

Quote: Scientists have found a gene mutation obtained on April 23, 2021 from https: //medicalxpress.com/news/2021-04-scientists-neurodevelopmental-disease-genetic-mutations.html (April 23, 2021). ) Identifies new neurodevelopmental disorders caused by

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Scientists identify new neurodevelopmental disorders caused by genetic mutations

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