All about “What is Bohring-Opitz Syndrome/ASXL1 (BOS Syndrome)?”
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Join this welcoming, safe, and friendly place and be able to participate and receive important treatment information. We, parents and caregivers from 60 countries, might not know all the answers, as you, we are always looking to find the best way to improve the life of our child with Bohring-Opitz Syndrome (BOS). But – together we are not…
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ASXL Natural History Study This registry, formerly called the ASXL Chromatin Disorders Registry/ASXL Registry, has been created to collect information about Bohring-Opitz Syndrome and ASXL related disorders in order to achieve a better understanding of these rare conditions for patients, caregivers and medical professionals. A well run registry helps produce scientific literature and leads to…
Read MoreWow – This is very interesting and special for us! Today the first study about clinical management of children with BOS by Bianca Russell and colleagues is published! http://onlinelibrary.wiley.com/…/10.…/ajmg.a.37131/abstract…
Read MoreNot a mixed bag: redefining syndromes associated with ASXL gene mutations.
Read MoreWhat a better day to share this new family story as the Awareness Day! Where do I start… My pregnancy was perfect, there were no problems at all until I reached 39 weeks and Ben stopped moving as much. I didn’t have a planned visit for the midwife so I phoned the hospital who asked me to…
Read MoreBohring-Opitz Syndrome will have the first Awareness Day on April 6th. Our awareness colours are blue denim and gold. Why this day? This day was chosen because that’s the day that the Bohring-Opitz Syndrome support group was created on Facebook 4 years ago! This group has helped so many families to connect all over the…
Read MoreBohring-Opitz Syndrome will have the first Awareness Day on April 6th this year.
Read MoreIn our Bohring-Opitz Syndrome support group on Facebook there is a child with partial deletion of ASXL1 gene. The SNP (single nucleotide polymorphism) chromosomal microarray testing has shown that the deletion on chromosome 20 is 165 kb in size and is located in 20q11.21. It contains the last 9 exons of the ASXL1 gene. In this…
Read MoreThe American Journal of Medical Genetics published a new study by Jedraszak et al.: “Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients.” This issue is published online on February 18th 2015. Until 2014 the 20q11.21 microdeletion was not connected to a specific disease. While Iourov et al. (2013) suggested that the interstitial microdeletion…
Read MoreA new family story! As I set out to write a story of Miranda, the first thing that pops into my mind is old familiar song lyrics, “how do you catch a cloud and pin it down?” She is amazing, challenging, magical, and profoundly an individual. However all of these traits might not be obvious…
Read MoreRecently, 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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Bohring-Opitz Syndrome/ASXL1 