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Author Topic:   Bruck Syndrome
Osama Zaki
unregistered
posted 01-15-2003 10:34 AM           Edit/Delete Message Reply w/Quote
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,
Conultant of Medical Genetics,
Dr. Soliman Fakeeh Hospital
Tel:+966-2-6655000 ext 1468
Fax:+966-2-6697164 Att.Dr. Osama K Zaki
E mail : ozaki@medical-genetics.net
web: www.drfakeeehhosital.com

IP: 212.62.98.20

kubisch
Member
posted 01-16-2003 10:27 AM     Click Here to See the Profile for kubisch   Click Here to Email kubisch     Edit/Delete Message Reply w/Quote
Dear Dr. Zaki,

with great interest I read your message about Bruck syndrome.
Although I did not work on Bruck syndrome up to now and I cannot do any biochemical analysis to confirm the diagnosis I wanted to discuss a possible molecular genetic approach.

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:
Originally posted by Osama Zaki:
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,
Conultant of Medical Genetics,
Dr. Soliman Fakeeh Hospital
Tel:+966-2-6655000 ext 1468
Fax:+966-2-6697164 Att.Dr. Osama K Zaki
E mail : ozaki@medical-genetics.net
web: www.drfakeeehhosital.com


IP: 131.220.34.1

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