Not a mixed bag: redefining syndromes associated with ASXL gene mutations.
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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.
Ben
What 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 MoreBOS Awareness Day April 6th
Bohring-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 MoreFirst BOS Awareness Day
Bohring-Opitz Syndrome will have the first Awareness Day on April 6th this year.
Read MorePartial deletion of ASXL1 gene
In 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 More20q11.2 microdeletion
The 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 MoreMiranda
A 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 MoreOther Cases which are compared with BOS
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…
Read MoreInformation about BOS
We have revised the page BOS. You can find information about History, Symptoms, the cause of BOS and inheritance and more.
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Bohring-Opitz Syndrome/ASXL1 