Researchers find a gene that causes Opitz C syndrome

The study, published in the journal Scientific Reports, identifies the gene that causes Opitz C syndrome in the only patient diagnosed with this ultra-rare disorder in Catalonia, which affects only sixty people in the world. The identified mutation in the gene MAGEL2 coincides with the one seen in some patients with another minority disease, the Schaaf-Yang syndrome.

Bron: Researchers find a gene that causes Opitz C syndrome

» Read here the article: Urreizti, R. et al. A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes. Sci. Rep. 7, 44138; doi: 10.1038/srep44138 (2017)

Note: 1999 Axel Bohring suggested that six children either represented the severe end of the clinical spectrum of ‘Opitz trigonocephaly C syndrome’ or comprised a separate entity. Since then there have been further reports of individual patients with similar findings and the terms ‘Bohring’, ‘Bohring-Opitz’ and ‘C-like syndrome’ have all been used to describe this condition. Bohring-Opitz Syndrome are similar to Opitz C Syndrome with phenotypical overlap.

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