News of the week 1

News of the Week 1

Opitz C syndrome is a genetic disease that causes severe disability in those affected and has been diagnosed in three people in the Iberian peninsula and in sixty worldwide. A scientific team led by Professors Daniel Grinberg and Susana Balcells, from the Human Molecular Genetics Group of the University of Barcelona and the Center for Biomedical Research in the Network of Rare Diseases (CIBERER), has identified a gene that causes Opitz syndrome C in the only patient diagnosed in Catalonia with this serious congenital pathology. This new scientific advance is a first step to better understand the genetic basis of this ailment that until now does not offer possibilities for treatment, prenatal diagnosis or genetic counseling.

John M. Opitz (University of Utah, United States), Giovanni Neri (Catholic University of the Sacred Heart, Italy) and a large group of experts from the Center for Genomic Regulation (CRG) and the Genetics Area Clinical and Molecular Department of the Vall d'Hebron University Hospital (VHIR).
The genetic basis of this ultra-minor disease, first described in 1969 by John M. Opitz, is still unknown. In general, it is thought that its origin is caused by the appearance of de novo mutations - present in the offspring but not in the progenitors - of a dominant character. At present, the diagnosis is clinical and is based on the symptoms presented by patients in different degrees (trigonocephaly, intellectual disability, psychomotor retardation, etc.) and that, in many cases, coincides quite a bit with other similar minor pathologies, Such as the Schaaf-Yang, Bohring-Opitz or Prader-Willi syndromes.

In the new study, experts have described for the first time the existence of a de novo mutation - p.Q638 * - located in the MAGEL2 gene of the only person initially diagnosed with Opitz C syndrome in Catalonia. Identification of this mutation, which is found in the Prader-Willi region of chromosome 15, extends the horizon of knowledge about genetics and the diagnostic possibilities of these ultrarraras diseases.

"The p.Q638 * mutation identified in the MAGEL2 gene coincides with what has been described independently and in parallel in a patient affected by Schaaf-Yang syndrome, a new minority pathology affecting around fifty people throughout the world world. The first cases were described in the scientific literature in 2013 by the team of Professor Christian Schaaf of the Baylor College of Medicine in Houston, "explains Professor Daniel Grinberg, a member of the Institute of Biomedicine at the University of Barcelona (IBUB). Sant Joan de Déu Research Institute (IRSJD) and CIBERER.

"Accordingly, from the point of view of genetic diagnosis, according to Daniel Grinberg, this patient initially diagnosed with Opitz C in Catalonia would correspond to the group of patients affected by Schaaf-Yang syndrome."