The BOS Registry

BOS registry 10

Our best chance to help individuals who are affected by Bohring-Opitz Syndrome (BOS) is a registry that will collect important information about raising a child with BOS and their medical history and build a resource for a better understanding of this rare disease for patients, caregivers as well for medical professionals.

The amount knowledge started small, with just four patients presented by Axel Bohring in 1999. Over the years, more and more cases were presented and our BOS Family is still growing.

The BOS & ASXL REGISTRY is here! We need your help in building such a resource and encourage you to become part of the “Bohring-Opitz Syndrome (BOS) & ASXL related Registry”. This registry, created by Dr. Bianca Russell and Dr. Wen-Hann Tan, is a milestone in the history of Bohring-Opitz Syndrome and the more people registered, the more valid and valuable the information becomes, which will result in a significant step in improving the lives of people affected with Bohring-Opitz Syndrome.

»Learn more about the registry!

Thank you for considering having your child or BOS-Angel join the registry. Your participation makes the difference!

 

4 thoughts on “The BOS Registry

  1. Troesch Corinne says:

    Hello,
    My son has a mutation on the ASXL gene but BOS was not confirmed as he hasn’t got all the clinical features (few); does it make sense though that I register to that database? We are based in Geneva, Switzerland. Exome sequencing has been done by the genetics dpt at the HUG (hôpitaux universitaires de Genève).
    Thanks in advance for your response.
    Kind regards,
    Corinne Troesch

    Liked by 1 person

    • Sünne says:

      Hello Corinne,
      Thank you for your interest in the BOS & ASXL Registry. There are three different ASXL genes. If your son has a gene mutation in the ASXL1 gene, he has Bohring-Opitz Syndrome. There are also mutations in the ASXL2 gene (not named yet) and in the ASXL3 gene, this is called Bainbridge-Ropers Syndrome, which are included in the registry.
      We have learned that not all clinical features of Bohring-Opitz Syndrome are present in individuals who have a mutation in the ASXL1 gene.
      Anyway, this registry is about all ASXL mutations not just ASXL1/Bohring-Opitz Syndrome and your participation is valuable and very welcome.
      If you have further questions about the registry, please contact the researchers in charge Dr. Bianca Russell and Dr. Wen-Hann Tan at ASXLRegistry@cchmc.org.
      Thank you for considering to be part of the registry,
      Best wishes,
      Sünne van Gemert-Godbersen

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      • Corinne Troesch says:

        Hello Sünne,
        Thank you so much for your quick reply.
        My son has a mutation on the ASXL1 gene, but it’s a variant of unknown significance (vus), and few clinical features correspond to the BOS syndrome, so they can not conclude its role in the pathology of my son. I have briefly talked to my son’s geneticist who thinks it’s worthwhile us participating in the BOS Registry so I will tonight send an email to the doctors in charge. Again, many thanks and best wishes. Corinne Troesch

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      • Sünne says:

        Hello Corinne, thank you for participating in the registry.
        After discovering the ASXL1 gene as disease causing for Bohring-Opitz Syndrome, more and more children were diagnosed with ASXL1/BOS, sometimes without conforming the classical features of BOS. Unfortunately, many of the cases are not mild, there are children who are able to walk, eat by mouth, and answer questions using an adaptive communication device. We are also aware of children with having some verbal language skills. Therefore, there is a range of disabilities and medical issues. As more patients are identified through WES and participating to the BOS registry, we are learning more about this rare syndrome.
        So, we appreciate that you want to contribute to the registry, too. Thank you!
        Sünne

        Like

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