title: [Mutation detection in SH3BP2 gene in a cherubism family].
abstract: OBJECTIVE
  To detect SH3BP2 gene mutation in a cherubism family.
  
  
  METHODS
  Peripheral blood samples were obtained from the family of cherubism. Genomic DNA was extracted. Polymerase chain reaction and direct sequencing were performed to identify the mutation.
  
  
  RESULTS
  A transition in exon 9 in SH3BP2 gene was detected in the family, which led to a missense mutation (Arg 415 Pro).
  
  
  CONCLUSIONS
  Missense mutation in the SH3BP2 gene was responsible for the phenotypes of this Chinese cherubism family.
authors.affiliation: Department of Oral Pathology, Peking University School and Hospital of Stomatology, Beijing 100081, China.
authors.forename: Cui-ying
authors.initials: CY
authors.lastname: Li
authors.forename: Shi-feng
authors.initials: SF
authors.lastname: Yu
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000328:Adult; D002636:Cherubism / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C109073:SH3BP2 protein, human