Scientists have discovered 49 new genetic mutations linked to developmental disorders.
They looked at genetic data from more than 31,000 groups of parent-child trios. A trio comprises both parents, plus the child.
Professor Joris Veltman said research has uncovered new genes linked to learning disabilities, but treatment remains a long way off
The researchers found 307 significantly enriched or heavily mutated genes. Some 49 of these were newly discovered de novo, or new, mutations.
They say these de novo genetic mutations cause about 40 per cent of developmental disorders. Among the conditions are autism, attention deficit hyperactivity disorder (ADHD), learning disabilities and Rett syndrome.
De novo mutations are not found in the parents. However, they may come from sperm or egg cells, or occur during early pregnancy.
Help in developing treatment and care
Joanna Kaplanis, a PhD student at the Wellcome Sanger Institute in Cambridgeshire, led the researchers.
She told a conference of the European Society of Human Genetics (ESHG) that identifying new developmental disorders rooted in de novo mutations will help towards developing “appropriate treatment and care”.
‘Starting point in the journey’
Professor Joris Veltman, director of the Institute of Genetic Medicine at Newcastle University, chaired the ESHG conference.
He said the study had revealed many new genes for developmental delay and learning disabilities.
But Veltman said it was important to realise that children are “born with this, so treatment is mostly impossible at this moment.
“But clearly, having a biological cause for the developmental delay is the starting point on the journey towards treatment.”
Scientists accounted for around half of the mutations
Examination of the trios produced more than 45,000 de novo mutations. These were then whittled down to the 307 genes where the mutations were “over-represented”.
From these 307 genes, the scientists say they were able to account for around 51 per cent of the 45,000 de novo mutations they found.
But it means almost half of the de novo mutations in developmental disorders remain unexplained.
Related:
- Network of 200 genes linked to autism
- 18 new genes found with links to autism
- Risk linked to common genes
- Gene found linking seizures and autism
- Cancer drug may reverse genetic autism
- Gene find points to better treatment
- New test heralds early autism diagnosis
- Gene link found to autistic behaviours
- Links found to bipolar and schizophrenia
Published: 28 June 2019
