Novel nucleotide mutation leading to a recurrent amino acid alteration in SH3BP2 in a patient with cherubism

Abstract

Cherubism is a rare genetic disorder characterized by progressive facial deformity caused by non-neoplastic bone lesions in the mandible and/or the maxilla. Src homology-3 binding protein 2 gene (SH3BP2) has been found to be the responsible gene, with alterations in six amino acids noted in patients with this condition. Recently, mutations in this domain have been found to cause stabilization of SH3BP2 by uncoupling with tankyrase. In this study, we identified a new 2-bp mutation that led to a recurrent amino acid change in a sporadic case of cherubism. Our findings indicate that it is important to understand the pattern of progress in typical cherubism. © 2013 Japanese Teratology Society.