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Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.
Y Ueki1, V Tiziani, C Santanna
1Harvard-Forsyth Department of Oral Biology, Harvard School of Dental Medicine and The Forsyth Institute, Harvard Medical School, Boston, Massachusetts, USA.
Nature Genetics
|May 31, 2001
Summary
Cherubism is an inherited jaw disorder causing facial swelling. Seven mutations in the SH3BP2 gene were identified as the cause of this condition.
Area of Science:
- Genetics
- Molecular Biology
- Pathology
Background:
- Cherubism is an autosomal dominant inherited syndrome.
- It is characterized by excessive bone degradation in the jaws and fibrous tissue masses, leading to facial swelling.
Purpose of the Study:
- To identify the genetic cause of cherubism.
Main Methods:
- Genetic analysis of affected individuals.
- Mutation screening of the SH3BP2 gene.
Main Results:
- Seven distinct mutations were identified in the SH3BP2 gene.
- These mutations were found in individuals with cherubism.
Conclusions:
- Mutations in the SH3BP2 gene are responsible for causing cherubism.
- This finding provides a molecular basis for understanding the syndrome.