A c.1244G>A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family: Report of a family with review of the literature
2014
Objectives: The present study was aimed at advancing the understanding of the pathogenesis of cherubism by
presenting a case study based on history, physical examination, typical radiological features, molecular and histo
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pathological laboratory tests and a review of the literature.
Study Design: This study began with a 7-year-old boy who was referred due to mandibular overgrowth. A pan
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oramic radiograph revealed multilocular radiolucent lesions of the upper/lower jaws suggestive of cherubism.
Overall, a total of four family members were tested for SH3BP2 mutations, namely two siblings and their parents.
Both siblings had been clinically diagnosed with cherubism; however, the parents were clinically normal. Periph
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eral blood was collected from all participants and genomic DNA sequencing was carried out.
Results: A missense mutation was found in the two affected siblings and their asymptomatic mother. The mu
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tation was a 1244 G>A transversion which resulted in an amino acid substitution from arginine to glutamine
(p.Arg415Gln) in exon 9.
Conclusions: The present study emphasized the importance of further clinical and molecular investigation even
when only a single case of cherubism is identified within a family. Genotype-phenotype association studies in
individuals with cherubism are necessary to provide important insights into the molecular mechanisms associated
with this disease.
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