Clinical and genetic analysis of patients with cherubism

Abstract

Objective

To describe the clinical and genetic features of patients with cherubism.

Material and Methods

A descriptive analysis of 14 cases from 9 different families was carried out. Clinicopathological, imaging and follow-up data were retrieved from patients’ medical files and correlated with the genetic profile of each patient. Genomic DNA isolated from buccal mucosa cells was subjected to direct sequencing analysis of the SH3BP2 gene.

Results

Females were more affected than males (8:6), and the mean age at diagnosis was 8.6 years (range 3 to 30 years). Eleven patients exhibited simultaneous bilateral involvement of the maxilla and mandible. Two patients did not have a familial history of cherubism. Progressive growth pattern was found in 6 patients and stable lesions were observed in other 7 patients, whereas in 1 patient complete spontaneous remission was documented during the follow-up (31 years). Mutations were found in 13 cases and included the typical heterozygous missense mutations R415Q, P418T and P418H at exon 9 of SH3BP2. No correlation between the mutations and the clinical manifestations was observed.

Conclusion

Three different point mutations in the SH3BP2 gene were detected with variable clinical involvement. Genotype-phenotype association studies in larger population with cherubism are necessary to provide important knowledge about molecular mechanisms related to the disease.

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