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Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism
Bryan Lo1, M Faiyaz-Ul-Haque, S Kennedy
1Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
American Journal of Medical Genetics. Part A
|August 6, 2003
Summary
Researchers identified a new SH3BP2 gene mutation causing cherubism, a rare inherited jaw disorder. This finding points to a critical protein domain involved in the condition's development.
Area of Science:
- Genetics
- Molecular Biology
- Pathology
Background:
- Cherubism is a rare, autosomal dominant inherited disorder.
- It manifests as jaw giant cell lesions, typically appearing in childhood and resolving post-puberty.
- Mutations in the SH3BP2 gene are the known cause of cherubism.
Observation:
- This study analyzed the SH3BP2 gene in a family affected by cherubism.
- Direct sequence analysis was employed to identify novel mutations.
- The research focused on individuals with the cherubism phenotype.
Findings:
- A previously unreported G to A transition in exon 9 of the SH3BP2 gene was discovered.
- This transition results in a Glycine to Arginine substitution at amino acid position 420 (G420R).
- This specific mutation, G420R, has been previously associated with cherubism, though via a different nucleotide transversion.
Implications:
- The findings reinforce the role of SH3BP2 mutations in cherubism.
- The identified mutation G420R suggests a potential critical protein domain (amino acids 415-420) within SH3BP2.
- Disruption of this domain may be key to understanding and potentially treating the cherubism phenotype.