Given the rarity and the phenotypical overlap, Bainbridge-Ropers Syndrome (BRS/BRPS) is associated with Bohring-Opitz Syndrome (BOS/BOPS). Now Alma Kuechler and colleguas report six previously unpublished patients with newly diagnosed heterozygous de novo loss-of-function variants in ASXL3. (Bainbridge–Ropers syndrome caused by loss-offunction variants in ASXL3: a recognizable condition) These new cases, together with the nine patients…
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Research
There are just 50 days left until international Rare Disease Day – 28 February 2017. This year it is all about RESEARCH. Research is the key to more knowledge and a better understanding of rare diseases like Bohring-Opitz Syndrome (BOS) with the aim of finding treatments and a cure. The amount knowledge about BOS started…
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Seasons greetings
The magic of Christmas never ends and it’s greatest of gifts are family and friends. Wishing you a season of gladness, a season of cheer,and to the top of it all, a healthy and wonderful year!
Read MoreA star is born
Today the first impressions by Bas Driessen Fotography of the premier KULUUT are released. Simply the best of this memorable day: the film’s protagonist Coen was even present. Being at the premier of KULUUT was emotional, touching and so special. KULUUT is honest, warm and lovingly and yes, words are failing me to describe this wonderful documentary…
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Giving Thanks
“This Thanksgiving, for the beauties and abundance of the earth, for family near and far, for friends old and new, for the gift of each brand new day and the chance to make a difference, let us give thanks.” – Kathy Davis
Read MoreThe ASXL Family is complete
Since the ASXL2 mutation has been finally discovered, the ASXL Family is complete. This discovery has motivated us to set up the DE NOVO ASXL ASSOCIATION. A cooperation between people who are affected with Bohring-Opitz Syndrome (ASXL1), Bainbridge-Ropers Syndrome (ASXL3) and people with De Novo Variants in ASXL2 gene as well as other related rare mutations…
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KULUUT
Honest, touching and beautiful: KULUUT! A documentary about a boy born with Bohring-Opitz Syndrome. But more than that – a documentary about finding happiness and unconditional love. Watch this promising trailer of the documentary KULUUT. I can’t wait to see the movie. The film will premiere on November 27th, 2016 in the Chassé Theatre of Breda, The…
Read MorePatients with Novo Mutation in ASXL2
Today “The American Journal of Human Genetics” published the discovery of the first patients with De Novo Truncating Variants in ASXL2. Vandana Shashi, a professor of pediatrics for the Division of Medical Genetics at Duke University School of Medicine, and colleagues present the first patient with De Novo Truncating Variants in ASXL2. Within a few weeks…
Read MoreAn Uncommon Presentation
Recently the Driscoll Children’s Hospital CORPUS CHRISTI, Texas, USA published the pediatric Case Report “An Uncommon Presentation of Bohring-Opitz Syndrome in a 2 Week-Old Newborn Female” in Austin Publishing. The patient was transferred to neonatal intensive care unit for evaluation of atrial and ventricular septal defects (ASD and VSD respectively) with congestive heart failure (CHF), intrauterine growth retardation…
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Bohring-Opitz Syndrome/ASXL1 