“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…
Read MoreAll articles filed in Sünne
German living in The Netherlands together with my husband and mother of four, writing about the rare disease Bohring-Opitz Syndrome (BOS) of my first born son at bohring-opitz.org and founder of the BOS support group on Facebook.
The BOS Registry
Our best chance to help individuals who are affected by Bohring-Opitz Syndrome (BOS) is a registry that will collect important information about raising a child with BOS and their medical history and build a resource for a better understanding of this rare disease for patients, caregivers as well for medical professionals. The amount knowledge started…
Read MoreA rare case of Bohring-Opitz Syndrome
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…
Read MoreSurveillance Recomendation
A new publication in the AACR (American Association for Cancer Research) by Jennifer M. Kalish and colleagues about uniform tumor screening recommendations for rare syndromes with increased risk for Wilms tumor, hepatoblastoma and other embryonal tumors like Bohring-Opitz Syndrome. “In the 43 cases reported by Russell and colleagues (2015), two patients developed WT and one…
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New Leaflet about BOS by Unique
Unique has published a new leaflet about Bohring-Opitz Syndrome (BOS)! Written by Dr. Joanna Kennedy1 and reviewed by Professor Ruth Newbury – Ecob2 this information guide is an exceptional user guide designed to help families, caregivers, educators, and medical professionals, alike, understand and plan appropriate care for children with Bohring-Opitz Syndrome. Unique, winners of Eurodis Patient…
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Happy Mother’s Day
Moms makes life beautiful – isn’t she lovely? Happy Mother’s Day!
Read MoreI am. We are. #BOSAware. Are we?
Today, April 6th is marked by a global community of patients and their families living with Bohring-Opitz Syndrome (BOS) and it represents BOS Awareness Day! We specifically use the word “marked” because using the words “celebrated” or “commemorated” could potentially stir up an entirely different set of issues. We’ve seen some parents write that Bohring-Opitz…
Read MoreResearchers 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…
Read MoreThank you
A big THANK YOU to you all who have given attention to Bohring-Opitz Syndrome on the international celebrated Rare Disease Day. Thank you for changing your profile picture to spread the word of Bohring-Opitz Syndrome and Rare Diseases, thank you for sharing information about Bohring-Opitz Syndrome like #BOSFACT and BOS infographic to give your family…
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Bohring-Opitz Syndrome/ASXL1 