“This is the first report of Bohring-Opitz syndrome caused by a mutation inherited from an unaffected, somatic mosaic parent with presumed germline mosaicism. This phenomenon has been reported for other traditionally de novo dominant disorders like CHARGE syndrome and Cornelia de Lange syndrome (2)(3). This case demonstrates that haploinsufficiency of ASXL1 is not lethal in the…

A large proportion of patients diagnosed with Bohring-Opitz Syndrome have a mutation in the ASXL1 gene. This case is different. Although the three-year-old girl from Malaysia showed different characteristics or Bohring-Opitz Syndrome, genetic analysis showed a 46xx – Bohring Opitz Syndrome overlapped with C syndrome. » Read here the Case Report: Bohring-Opitz Syndrome – a…

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…