Mutation detection in SH3BP2 gene in a cherubism family / 中华口腔医学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To detect SH3BP2 gene mutation in a cherubism family.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>A transition in exon 9 in SH3BP2 gene was detected in the family, which led to a missense mutation (Arg 415 Pro).</p><p><b>CONCLUSIONS</b>Missense mutation in the SH3BP2 gene was responsible for the phenotypes of this Chinese cherubism family.</p>