“”We come out of an isolation which was scary for many families, an endless tunnel of diagnostic research“, Recalls to AFP Carole Hervé, whose four -year -old daughter has development disorders.
The discovery of the renu syndrome
After several years of uncertainty, Ms. Hervé was contacted in 2024 by researchers who informed her that her daughter, incapable for the time of walking or speaking, is carrying the same genetic anomaly as around 150 French affected by similar disorders.
This was the consequence of a study published in the spring of 2024 in the journal Medicine nature. Its authors, led by the geneticist Ernest Turro, showed that the mutations of a gene, RNU4-2, cause a relatively frequent number of intellectual disabilities.
“”It was a huge surprise“, Explains French researcher Caroline Nava, geneticist at Inserm and CNRS.”It is a major gene for development problems. It explains 0.5% of these disorders. “
The proportion may seem minimal, these disorders themselves concern around 1% of the population. But this already represents hundreds of patients diagnosed around the world, and potentially much more, while this type of discoveries generally only concerns a handful of people.
Patients and researchers quickly found a name for the associated pathology: Syndrome Renu, named after the gene involved, to pronounce as “Renew”.
How to explain that such a discovery took so long, when the main genetic diseases already seemed well known? The RNU4-2 gene and his family have long seen their role neglected because they are not involved in the creation of proteins.
“Relief and appeasement”
“”It is one of the non -coding genes that were not analyzed before“, Deciphers Ms. Nava who, like other geneticists, now continues research on this syndrome and on close pathologies.
The researcher led, at the head of a Franco-German team and using the massive sequencing of more than 20,000 genomes of patients with rare diseases, a study published in May in Nature Genetics.
This work offers new ways to diagnose SNU syndrome. It also highlights the role of other genes in the RNU family in developmental disorders.
“”It is the same family of genes, but patients are not alike“, nuance however Ms. Nava, specifying that the new identified genes appear more often linked to malformations.
If research continues, the consequences are already real for families, even if you are far from having found concrete treatment tracks for patients.
“”What comes out all the time when you give a name behind the symptoms of a child is relief and appeasement“Summarizes Ms. Hervé, while a good half of people with developmental disorders live without diagnosis.
Parents thus had the relief of learning that the Renu syndrome was not degenerative: the condition of their child should not deteriorate over time. The genetic origin of the disease is also impact, especially for mothers who wonder if they have been able to have a risk at risk during pregnancy.
And the discovery of syndrome allowed families to meet. In France, an association, founded by Ms. Hervé, launched ended at the end of 2024.
“”See that the routes are varied, it allows to have hope: some children manage to walk “ she underlines. “”While when we have no diagnosis, we don’t know where we are going“.