Camptodactyly-Arthropathy-Coxa Vara-Pericarditis
  
Our group identified the CACP gene. It maps to human chromosome 1 in the region 1q25-q31 and encodes a large highly glycosylated secreted protein. Disease causing changes to this gene have been identified in many, but not all, affected individuals. We are currently performing mutation detection on a research basis. To the best of our knowledge, molecular testing to make the diagnosis or to identify unaffected carriers is not clinically available. Physicians seeking assistance in making this diagnosis are welcome to contact us. Additional resources that may be of value are listed below.
We are seeking additional individuals and families with CACP to participate in our research. We would like to identify other disease causing genetic changes and to study their direct consequences on joint cells, joint fluid, pericardium, and tendon cells. We are therefore seeking blood samples for DNA analysis. Additionally, for patients undergoing a diagnostic joint biopsy, arthroscopy, or joint surgical procedure, we would be very interested in obtaining synovial fluid and/or synovial tissue. Pericardial tissue and/or tendon sheath tissue would also be of great value to our research. Studying the consequences of CACP at the cellular, biophysical and protein levels may facilitate the development of novel therapeutic strategies.
If you are a patient, or have a patient with CACP interested in participating in our research, please contact us. For sample submission instructions, click on How to submit samples. We request that you complete a CACP data collection form and have the participant sign our consent form.
If you are a patient or family member interested in communicating with other families, please email Dr. Warman. Whenever new consenting family members contact us, emails (or phone numbers) will be exchanged. The Center for the Study of Genetic Bone and Joint Disorders does not monitor communications directly between families, and therefore cannot be responsible for the accuracy of information exchanged.
Additional information can be obtained through Online Mendelian Inheritance in Man, a database catalogue of human genes and genetic disorders edited by Victor A. McKusick and colleagues. The OMIM number for CACP is 208250.
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