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New genes linked to developmental disorders

Thursday October 15th 2020

Scientists have identified 285 genes, including 28 newly associated genes, linked to developmental disorders, it was announced last night.

Research by the Wellcome Sanger Institute, Radboud University Medical Centre, in The Netherlands, OPKO Health's GeneDx and collaborators say their findings will lead to diagnoses for about 500 families living with a rare condition.

About 400,000 babies are born every year with de novo mutations, which interfere with their development and can lead to conditions such as intellectual disability, epilepsy, autism or heart defects.

Although the de novo mutations in genes that create proteins are a well-established cause of developmental disorders, many of the genes linked to the disorders remain unknown.

In this study, published in the latest edition of Nature, researchers analysed 31,058 exome sequence trios, comprising sequences from a child with a developmental disorder and both parents.

The sample was created by combining existing research and clinical datasets from the Wellcome Sanger Institute, Radboud University Medical Centre and GeneDx and the researchers went on to use an improved statistical test to determine if the participants had more mutations in the same gene than they would expect to occur by chance.

They also applied statistical modelling to the data to estimate that approximately 1,000 more development disorder-associated genes remain undiscovered. Because about 60% of children born with a disorder do not have a diagnosis, the authors estimate that about half of these children will have a mutation in one of these unknown genes.

Study first author Dr Kaitlin Samocha, of the Wellcome Sanger Institute, said: “From previous studies we know that certain genes and types of mutation are more strongly linked to developmental disorders, which has allowed us to narrow our search. Combined with a much larger dataset, this has enabled us to identify 28 novel genes associated with developmental disorders.”

Professor Matthew Hurles, lead author from the Wellcome Sanger Institute, added: “This study has really shown the benefits of access to healthcare data, not least to the approximately 500 families living with a developmental disorder who had not been able to get a diagnosis until now.

“But our findings also estimate that we require ten times as much data to be able to identify all the genes linked to developmental disorders. As such, greater access to anonymised patient data is crucial to our understanding of these conditions and our ability to help the families living with them.”

Kaplanis J, Samocha KE and Wiel L et al. Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders. Nature 14 October 2020

https://doi.org/10.1038/s41586-020-2832-5

Tags: Child Health | Europe | Genetics | World Health

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