There are 40 people worldwide suffering from Opitz syndrome C. A team from the University of Barcelona and the CIBERER has identified a gene that causes the disease. It is a first step in understanding the genetic basis of the syndrome. To date, in fact, there is no treatment or prenatal diagnostic test for the disease.
The genetic causes of Opitz C syndrome are still almost completely unknown, partly because of the rarity of the disease. It is thought to be related to a mutation inherited from the maternal side. At the moment, therefore, the diagnosis is purely clinical and based on symptomatology present in varying degrees in the identified patients. In many cases, the symptoms coincide with similar conditions such as Schaaf-Yang syndromes, Bohring-Opitz syndrome and Prader-Willi. This makes it impossible for the time being also a prenatal diagnosis.
In the new study, researchers have described for the first time a mutation in this gene MAGEL2. It is located in the Prader-Willi region on chromosome 15. The discovery opens the door to new studies on the disease and the development of tests to detect these chromosomal abnormalities during pregnancy.
Scholars have found the mutation in the only person affected by the syndrome in Catalonia. It coincides with the anomaly of a patient suffering from Schaaf-Yang syndrome, a rare disease that affects 50 people in the world.