title: Variable expressivity familial cherubism: woman transmitting cherubism without suffering the disease.
abstract: Cherubism is classified within the group of benign osteo-fibrous lesions. Aside from facial deformities, it may account for major complications. It has been observed that the disease is caused by a mutation in the gene SH3BP2 (SH3-domain binding protein 2), which is located at chromosome 4pl6.3. Here we present two cases of familial cherubism, uncle and nephew, with variable clinical involvement ("Expressivity"), and one case of a woman (sister and mother, respectively), who transmitted cherubism without suffering the disease. In this article we have shown that, in familial cherubism cases, the mutation is inherited through an autosomal dominant transmission. Mutations affecting gene SH3BP2 cause variable clinical involvement (variable expressivity), involvement can be moderate, severe or may result merely in asymptomatic carriers. Since the possibility of transmission reaches 50% of chances, we believe that it is important to develop genetic counseling for both patients and carriers, in order to prevent or minimize new affected offspring.
  
  
  BACKGROUND
  Cherubism; SH3BP2; Expressivity.
authors.forename: Mario
authors.initials: M
authors.lastname: Pérez-Sayáns
authors.forename: Francisco
authors.initials: F
authors.lastname: Barros-Angueira
authors.forename: Jos Ém
authors.initials: JÉ
authors.lastname: Suárez-Peñaranda
authors.forename: Abel
authors.initials: A
authors.lastname: García-García
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D002636:Cherubism / Q000145:classification / Q000000981:diagnostic imaging / Q000235:genetics*; D002648:Child; D005799:Genes, Dominant / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D008334:Mandible / Q000000981:diagnostic imaging; D020125:Mutation, Missense; D019683:Penetrance; D011862:Radiography, Panoramic; D057127:Single-Chain Antibodies
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C109073:SH3BP2 protein, human; D057127:Single-Chain Antibodies