Unique Variant of Camurati-Engelmann Disease with Novel Mutations
Author Information
Author(s): Michael P Whyte, William G Totty, Deborah V Novack, Xiafang Zhang, Deborah Wenkert, Steven Mumm
Primary Institution: Washington University School of Medicine
Hypothesis
What genetic mutations are associated with a unique variant of Camurati-Engelmann disease?
Conclusion
The study identifies a novel mutation in TGFβ1 and a missense change in TNFSF11 in a mother and son with a unique variant of Camurati-Engelmann disease.
Supporting Evidence
- The son exhibited severe skeletal abnormalities and elevated biochemical markers of bone turnover.
- Both individuals were found to have a novel 12-bp duplication in TGFβ1.
- The son was also homozygous for a missense change in TNFSF11, which was not found in the SNP Database.
Takeaway
A mother and her son have a rare bone disease caused by changes in their genes that help control bone growth.
Methodology
The study involved genetic analysis, biochemical testing, and radiological assessments of the mother and son.
Limitations
The study is limited by the small sample size and the lack of long-term follow-up data.
Participant Demographics
The participants included a 32-year-old male and his 59-year-old mother, both of Caucasian descent.
Digital Object Identifier (DOI)
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