Genetic and Functional Analysis of Cherubism
关键词
抽象
描述
Cherubism is a very rare bone disorder where bone gets excessively resorbed only in the jaw bones (mandible and maxilla). The resulting cavities in bone fill up with soft fibrous (fibro-osseous) tissues that can expand and push the bony shells apart. Thus the characteristic facial appearance in patients with progressed cherubism. Bone resorption (cherubism lesions) in this disorder occurs always symmetrically in the mandible, the maxilla or in both. This distinguishes cherubism from similar disorders. As cherubism progresses, the lesions can invade the eye sockets (inferior and/or lateral orbital walls) and displace the eye balls and push down the eyelids. As a result the sclera (white of the eye) below the iris becomes visible and patients have an upward gazing appearance (cherubic look) which gave the name to this fibro-proliferative bone disorder.
Cherubism typically appears between ages of 2-7 years. It is often diagnosed during dental evaluations. At early stages cherubism is accompanied by lymph node swelling. Proliferation of the fibro-osseous tissue typically stops after puberty and in many the soft tissue in the cherubic bone cavities are replaced by new bone.
For this study we will:
- Send out study participation kits and consent by phone
- Collect a saliva sample from eligible individuals
- Obtain information regarding cherubism
- Document disorder with photos and doctor's letters
- If patients undergo surgery for cherubism we ask to obtain some bone tissue that would otherwise be discarded
- Isolate DNA from the saliva sample
- Perform genetic analyses of the DNA with the most up-to-date methods available to identify genetic variations
- Study in the laboratory why the genetic variations cause the disorder
日期
最后验证: | 10/31/2019 |
首次提交: | 06/24/2012 |
提交的预估入学人数: | 06/26/2012 |
首次发布: | 06/27/2012 |
上次提交的更新: | 11/25/2019 |
最近更新发布: | 11/28/2019 |
实际学习开始日期: | 03/31/2009 |
预计主要完成日期: | 11/30/2025 |
预计完成日期: | 11/30/2025 |
状况或疾病
相
资格标准
有资格学习的性别 | All |
取样方式 | Non-Probability Sample |
接受健康志愿者 | 是 |
标准 | Inclusion Criteria: - cherubism; unaffected individuals only if part of a participating cherubism family Exclusion Criteria: - no cherubism unaffected individuals only as part of a participating cherubism family |
结果
主要结果指标
1. Identification of genetic elements [at time of identification]