Originally posted on elisakitblog:
Recently, key laboratory researcher Wang Qianfei from Beijing Institute of Genomics, Chinese Academy of Medical accurate genome and professor Yang Fengchun of the University of Miami Miller School of Medicine cooperated to reveal the critical role of germline newborn Bohring-Opitz syndrome mutations ASXL1 multipotent progenitor cells in the bone marrow stromal…
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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.
Bohring-Opitz syndrome in Mice
Research from University of Miami Miller School of Medicine, Miami, and Beijing Institute of Genomics, China demonstrate, by using Asxl1-targeted mouse models, a crucial role of ASXL1 in the maintenance of Bone marrow stromal cells (BMSCs) functions and skeletal development. The heterogeneous novo mutation of the ASXL1 gene causes Bohring-Opitz syndrome (BOS), a rare congenital disorder. Asxl1 global loss as well as…
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New images for Face2Gene
We are very excited that families of a child with Bohring-Opitz syndrome (BOS) have submitted until now 150 new images. A while ago we asked parents of the BOS family, united in the Bohring-Opitz syndrome support group, to help Face2Gene by uploading images of their children. Face2Gene is a genetic search and reference tool powered by…
Read MoreNew Case Study
The Department of clinical genetics and pediatrics, Christian Medical College Vellore, India published a new case study on Bohring-Opitz Syndrome in Clinical Dysmorphology, April 7, 2016. The authors presented a baby girl with a novel de-novo frameshift mutation of the ASXL1 gene who shows the features of a classic case of Bohring-Opitz syndrome. » Read here the case study “A…
Read MoreKULUUT
We are so excited! The new Trailer of KULUUT is promising to be a great documentary. A documentary made by C Amzing Films about a family with an extraordinary child with a rare syndrome, the Bohring-Opitz Syndrome, but most of all about the happiness of the family, even when they experience some difficult times. See…
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Thank you!
Yesterday it was a great day. Through your support you all have made the 5th Anniversary of the Bohring-Opitz Syndrome Support Group on BOS Awareness Day 2016 even more special! It feels like heaven and we are grateful for what you have done! Thank you so much! Our HIGH 5 for YOU!
Read MoreToday is BOS Awareness Day!
On April 6th, the day that the first support group for families and carers of children with Bohring-Opitz syndrome (BOS) is created, is BOS Awareness Day! On this day we honor all the children, born with Bohring-Opitz Syndrome, their families and friends as well as all the caregivers of these children. For this day we…
Read MoreHigh 5 for BOS
Give a HIGH FIVE for BOHRING-OPITZ SYNDROME! We are excited to celebrate that the first Bohring-Opitz Syndrome (BOS) SUPPORT GROUP will be five years old on APRIL 6th, the international Bohring-Opitz Syndrome AWARENESS DAY! This initiative is creating a worldwide virtual high five chain in support of children with Bohring-Opitz Syndrome and their families…
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Main features of Bohring-Opitz Syndrome
Each child with Bohring-Opitz Syndrome is affected differently, but the physical appearance of children with Bohring-Opitz Syndrome is often alike and the clinical phenotype at birth is extremely similar. Not everyone will have all of these certain physical characteristics, but they may include features as described in these “Clinical Feature Cards” with the main features of Bohring-Opitz…
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Bohring-Opitz Syndrome/ASXL1 