Recently, some difficult questions have arisen in our Facebook group regarding the ASXL1 gene and how it affects our children. Is a micro deletion of 20q 12.21 chromosome (on which the ASXL1 gene is located) also Bohring-Opitz Syndrome (BOS)? Are any other diseases linked to BOS? As we all know, medical publications can be very…
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Information about BOS
We have revised the page BOS. You can find information about History, Symptoms, the cause of BOS and inheritance and more.
Read MoreRare Disease Day 2015
Today is Rare Disease Day! The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. Bohring-Opitz syndrome is a rare genetic condition. Up to date worldwide there are only 35 cases reported. When a child is diagnosed with this syndrome,…
Read MoreWilms tumor and BOS
At the 64th Annual Meeting of the American Society of Human Genetics on October 18-22, 2014, in San Diego, CA present Russel, B. et al. five previously unpublished patients with mutations in ASXL1. “With the occurrence of bilateral Wilms tumor in one of the patients, screening renal ultrasounds were recommended to the other patients. This led to the…
Read MoreJannis
A new Family story The dream of one’s own child…who doesn’t dream about it? So, mum and dad. They had to wait so long for me. And what do they do, these expectant parents? They look forward … (read more about Jannis)
Read MoreKylee
A new Family story! Kylee’s diagnosis was undetermined until late last year(2013) when her test results came back positive for Bohring Opitz Syndrome. Kylee was born with … (read more about Kylee)
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Bohring-Opitz Syndrome/ASXL1 