Congenital anomalies, which include developmental disorders, neural tube defects, heart defects, autism, Down syndrome, or other forms of intellectual disability, are responsible for the deaths of more than 300,000 children worldwide. And in more than 50% of these abnormalities the cause is not known but it is known that genes play a key role.
Now, a team of scientists from the Wellcome Trust Sanger Institute in Cambridge (United Kingdom), together with experts Matthew Hurles and Jeremy McRae, have just discovered 14 new genes responsible for developmental disorders thanks to the decipherment study of developmental disorders .
A team of 200 geneticists examined more than 20,000 human genes and included complete Exome sequencing (which looks at specific regions of genes) of 4,293 families that had at least one member with a severe but undiagnosed developmental disorder. In sequencing this study, the researchers focused on mutations that arise spontaneously when DNA is passed from parent to child. These mutations are not present in either parent, and they appear for the first time in a family member.
The scientists combined the clinical data with previous analyzes of 3,287 other people living with similar disorders. The results revealed 94 genes that were particularly prone to new mutations. Among them, 14 genes had not previously been recognized in developmental disorders and, according to experts, these new mutations would affect 1 in 300 children.
“ Families seek a genetic diagnosis for their children, as this helps them understand the cause of their child’s disorder. This can help doctors better manage the child’s condition, and provides clues for research into future therapies. It may allow let parents know what the future holds for their child and the risk that any subsequent pregnancy will be affected with the same disorder, which can be a huge help if they want a larger family, “explains David FitzPatrick, co-author of the job.
The results have been published in the journal Nature.
