Opitz C syndrome is an extremely rare genetic disease that causes severe disabilities in patients and has been diagnosed in three people in the Iberian Peninsula, and sixty people in the world. A team led by the Professors Daniel Grinberg and Susana Balcells, from the Group on Human Molecular Genetics of the University of Barcelona and the Biomedical Research Networking Center of Rare Diseases (CIBERER) has now identified a gene that causes the Opitz C syndrome in the only patient in Catalonia, Spain, diagnosed with this severe congenital disease. This new scientific advance is a first step to discover the genetic bases of this syndrome which, so far, does not offer treatment possibilities, prenatal diagnosis, or genetic counseling. The new study, published online on March 10, 2017 in the journal Scientific Reports, has the participation of several researchers at the CRG, including members of the Genomic and Epigenomic Variation in Disease laboratory, the Genomics Unit, and the Bioinformatics Unit. It also had the participation of John M. Opitz (University of Utah, United States), Giovanni Neri (Catholic University of the Sacred Heart, Italy) and experts at the Department of Clinical and Molecular Genetics of the University Hospital Vall d'Hebron (VHIR). The open-access article is titled “A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed As Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.” The genetic bases of this very rare disease, described for the first time in 1969 by Dr. John M. Opitz, are still unknown. It is generally thought that its origin can be traced to the occurrence of dominant, maternally silenced de novo mutations.
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