How common are rare diseases?

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As we know, genes contain the information for the manufacture of all the proteins in our body. Among them, there are proteins called ubiquitin ligases...

There are many human genetic diseases caused by the appearance of pathogenic variants in genes that encode these ubiquitins. And within this huge family of genes, we are going to highlight one of them, the gene RNF125, which until a few years ago, had not been linked to any disease.

However, next-generation sequencing or parallel mass sequencing (NGS) studiesus to study our DNA from different strategies,”) Has made it possible to identify several families with variants in this gene, which present clinical characteristics common to all of them, among which the following stand out: postnatal overgrowth, neonatal hypoglycemia, recurrent inflammatory diseases, neurodevelopmental alterations and characteristic clinical facial characteristics.

This disease, caused by mutations in the gene RNF125, is currently known as Tenorio syndrome, name coined by John Hopkins University and the McKusick-Nathans department of genetic medicine in honor of the group of researchers and specifically the first author from the original post.

Currently, there are approximately some 19 cases worldwide, which implies great importance to give visibility to this type of rare diseases. The knowledge generated by genetic research is fascinating, as demonstrated in the description of this new disease.

If you would like to learn more about your own disease susceptibility based on your DNA, consider our report.

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