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DIAGnostics - Clinical Research (professional requests) Bruck Syndrome
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Author | Topic: Bruck Syndrome |
Osama Zaki unregistered |
posted 01-15-2003 10:34 AM
Few days ago, I came across a case of familial repeated fractures and webbing that looks almost exactly as the published cases with Bruck syndrome. The defect is in bone-specific telopeptide lysyl hydroxylase on chromosome 17. However, I could not find a Lab that carries routine investigation of this enzyme. Please, let me know if it is possible to collaborate with any facility to confirm the diagnosis and/or plan for future prenatal diagnosis (Parents are planning to have more children) Best regards Osama Dr.Osama K Zaki, IP: 212.62.98.20 |
kubisch Member |
posted 01-16-2003 10:27 AM
Dear Dr. Zaki, with great interest I read your message about Bruck syndrome. In fact, I am a Human Geneticist interested in bone phenotypes from a scientific point of view, and maybe I could offer some kind of molecular diagnostics. Although Bruck syndrome is caused by a biochemical defect in telopeptide lysyl hydroxylase (PNAS 1999;96:1054-8), the underlying genetic defect is not known. Yet, the authors of the above mentioned paper did find a positive linkage on chromosome 17. This means that also in your family a linkage analysis may be possible if the family is of sufficient size. In case you might be interested in this possibility I would be happy to hearing from you to discuss this point in more detail. Best regards Christian Kubisch, MD
quote: IP: 131.220.34.1 |
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