Abstract
Cherubism (MIM 118400) is an autosomal dominant inherited syndrome characterized by excessive bone degradation of the upper and lower jaws1 followed by development of fibrous tissue masses, which causes a characteristic facial swelling. Here we describe seven mutations in the SH3-binding protein SH3BP2 (MIM 602104) on chromosome 4p16.3 that cause cherubism.
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Acknowledgements
We thank the families for their support and participation. We also thank Q. Feng and R. Kassollja for their technical assistance; F. Dewhirst, S. Boches and J. Galvin for assistance with sequencing; and G.D. Roodman for generously providing human osteoclast RNA. This study was supported in part by grants from Aventis and NIH (AR36819 and AR36820) to B.R.O.
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Ueki, Y., Tiziani, V., Santanna, C. et al. Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Nat Genet 28, 125–126 (2001). https://doi.org/10.1038/88832
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DOI: https://doi.org/10.1038/88832
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