Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism

Cherubism (MIM 118400) is an autosomal dominant inherited syndrome characterized by excessive bone degradation of the upper and lower jaws(1) followed by development of fibrous tissue masses, which causes a characteristic facial swelling. Here we describe seven mutations in the SH3-binding protein SH3BP2 (MIM 602104) on chromosome 4p16.3 that cause cherubism.Harvard Univ, Sch Med, Harvard Forsyth Dept Oral Biol, Harvard Sch Dent Med, Boston, MA USAHarvard Univ, Sch Med, Forsyth Inst, Boston, MA USAHarvard Univ, Sch Med, Dept Cell Biol, Boston, MA USAUniversidade Federal de São Paulo, EPM, Campinas, SP, BrazilSOBRAPAR, Inst Cirug Plast Craniofacial, Campinas, SP, BrazilHumboldt Univ, Inst Med Genet, Sch Med, Berlin, GermanyTampa Craniofacial Ctr, Tampa, FL USAUniv Calif Davis, Sacramento, CA 95817 USASo Maine Oral & Maxillofacial Surg, S Portland, ME USAUniv Copenhagen, Sch Dent, Dept Pediat Dent, Copenhagen, DenmarkUniversidade Federal de São Paulo, EPM, Campinas, SP, BrazilWeb of Scienc