The C syndrome, also known as the Opitz trigonocephaly syndrome, is a malformation syndrome characterized by trigonocephaly, severe mental retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features. Although this syndrome was described in 1969 by Dr. John M. Opitz
, the causative genes and the mode of inheritance are still unknown by Urreizti et al., 2016
. The Bioinformatics Core collaborates with the geneticists from the University of Barcelona, Drs. Daniel Grinberg and Susana Balcells, and the Opitz C Association on analysis of the whole genomes of a patient and her parents to detect the putative causative mutations. The paper describing the results of sequencing and a de novo
nonsense mutation in MAGEL2 in the affected patient was published in Scientific Reports, 2017.