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Cherubism

  • SH3BP2 (SH3 Domain-Binding Protein 2)
Cherubism is a rare genetic syndrome in which rapid bone degradation of the jaw occurs in childhood followed by extensive bone remodeling resulting in the presence of multiple benign cysts in the mandible and/or maxilla. The facial features are characterized by symmetrically swollen cheeks and upward turning of the eyes, and have been described as resembling the faces of cherubs found in Renaissance art. Associated dental abnormalities may include congenitally missing teeth, premature loss of the deciduous teeth, and displacement of the permanent teeth by jaw lesions.

Cherubism is an autosomal dominant disorder with higher penetrance in males (~100%) than females (50-70%). Mutations exclusive to exon 9 of the SH3BP2 gene account for most cases. In one study, SH3BP2 mutations were identified in patients with clinically diagnosed Cherubism in 12 out of 15 (80%) families.

Using genomic DNA obtained from buccal (cheek) swabs or blood (1-5 mL in EDTA), GeneDx will perform bi-directional sequence analysis of exon 9 of the SH3BP2, where all mutations have been reported to date. This approach is expected to identify >99% of existing small, intrageneic mutations in exon 9 of the SH3BP2 gene. Mutation-specific testing in family members and prenatal diagnosis in at-risk pregnancies is available once a mutation in an affected individual has been defined.

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Cherubism; SH3BP2; bone; degradation; jaw; remodeling; benign; cysts; lesions; skin; mandible; maxilla; swollen cheeks; upward-turning; eyes; cherub; missing; premature loss; teeth; Noonan-like/Multiple giant-cell lesion syndrome; Central giant-cell granuloma; Fibrous dysplasia of the jaw; Hyperparathyroidism; Ramon syndrome; Neurofibromatosis Type 1; autosomal dominant; exon 9

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