News from CRG
Opitz C syndrome is a 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 diagnosed with this severe congenital disease.
The new study, published 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, US), Giovanni Neri (Catholic University of the Sacred Heart, Italy) and experts at the Department of Clinical and Molecular Genetics (VHIR).
The genetic bases of this ultra-minority disease, described for the first time in 1969 by John M. Opitz, are still unknown. It is generally thought that its origin is caused by the apparition of dominant -maternally silenced- novo mutations. At the moment, the diagnose is clinical and it is based on the symptomatology presented on patients with different degrees (trigonocephaly, learning disability, psychomotor disability, etc.) and which, in lots of cases, coincides with similar minority pathologies such as the syndromes of Schaaf-Yang, Bohring-Opitz and Prader-Willi.
R. Urreizti, A. M. Cueto-González, H. Franco-Valls, S. Mort-Farre, N. Roca-Ayats, J. Ponomarenko, L. Cozzuto, C. Company, M. Bosio, S. Ossowski, M. Montfort, J. Hecht, E. F. Tizzano. B. Cormand, L. Vilageliu, J. M. Opitz, G. Neri, D. Grinberg, S. Balcells. «A de novo nonsense mutation in Magel 2 in a patient initially diagnosed as Opitz-C: similarities between Schaaf-Yang and Optiz-C Syndromes». Scientific Reports, March 2017. DOI:10.1038/srep44138