Novel nucleotide mutation leading to a recurrent amino acid alteration in SH3BP2 in a patient with cherubism.
Cherubism is a rare genetic disorder characterized by progressive facial deformity caused by non-neoplastic bone lesions in the mandible and/or the maxilla. Src homology-3 binding protein 2 gene (SH3BP2) has been found to be the responsible gene, with alterations in six amino acids noted in patients with this condition. Recently, mutations in this domain have been found to cause stabilization of SH3BP2 by uncoupling with tankyrase. In this study, we identified a new 2-bp mutation that led to a recurrent amino acid change in a sporadic case of cherubism. Our findings indicate that it is important to understand the pattern of progress in typical cherubism.
Department of Oral and Maxillofacial Surgery, School of Medicine, Tokyo Women's Medical University, Tokyo; Institute for Integrated Medical Sciences, Tokyo Women's Medical University, Tokyo.
Noriko
N
Sangu
Tsuyoshi
T
Shimosato
Hirosato
H
Inoda
Shino
S
Shimada
Keiko
K
Shimojima
Tomohiro
T
Ando
Toshiyuki
T
Yamamoto
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D019943:Amino Acid Substitution; D002636:Cherubism / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D023061:Gene Order; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D010641:Phenotype; D014057:Tomography, X-Ray Computed
D048868:Adaptor Proteins, Signal Transducing; C109073:SH3BP2 protein, human
SH3BP2; Tankyrase; cherubism; multilocular cystic lesions; mutation