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

Nat Genet. 2001 Jun;28(2):125-6. doi: 10.1038/88832.

Abstract

Cherubism (MIM 118400) is an autosomal dominant inherited syndrome characterized by excessive bone degradation of the upper and lower jaws 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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adaptor Proteins, Signal Transducing*
  • Carrier Proteins / genetics*
  • Carrier Proteins / metabolism
  • Cherubism / genetics*
  • Cherubism / pathology
  • Genetic Linkage
  • Haplotypes / genetics
  • Heterozygote
  • Humans
  • Mutation*
  • Pedigree
  • Proto-Oncogene Proteins c-abl / metabolism
  • Stromal Cells / metabolism
  • Stromal Cells / pathology

Substances

  • Adaptor Proteins, Signal Transducing
  • Carrier Proteins
  • SH3BP2 protein, human
  • Proto-Oncogene Proteins c-abl