A novel mutation in the SH3BP2 gene causes cherubism: case report.
BACKGROUND
Cherubism is a rare hereditary multi-cystic disease of the jaws, characterized by its typical appearance in early childhood, and stabilization and remission after puberty. It is genetically transmitted in an autosomal dominant fashion and the gene coding for SH3-binding protein 2 (SH3BP2) may be involved.


METHODS
We investigated a family consisting of 21 members with 3 female affected individuals with cherubism from Northern China. Of these 21 family members, 17 were recruited for the genetic analysis. We conducted the direct sequence analysis of the SH3BP2 gene among these 17 family members. A disease-causing mutation was identified in exon 9 of the gene. It was an A1517G base change, which leads to a D419G amino acid substitution.


CONCLUSIONS
To our knowledge, the A1517G mutation has not been reported previously in cherubism. This finding is novel.
Li
Cui-Ying
CY
Department of Oral Pathology, School of Stomatology, Peking University, Beijing, China. licuiying_67@163.com
Yu
Shi-Feng
SF
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D002636:Cherubism / Q000000981:diagnostic imaging / Q000235:genetics*; D002648:Child; D002681:China; D005091:Exons; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011859:Radiography; D017422:Sequence Analysis, DNA; D018909:src Homology Domains / Q000235:genetics*
D048868:Adaptor Proteins, Signal Transducing; C109073:SH3BP2 protein, human